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Revvity Omics (Revvity)

General information

Revvity Omics
Revvity
250 Industry Drive Suite 400
Pittsburgh
Pennsylvania
United States - 15275-1017
https://www.revvity.com/category/clinical-genomic-services
Organization ID: 167595

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 37031

Gene

GeneSubmissionsLast Updated
A2ML113Jan 26, 2024
A2ML1-AS12Jan 26, 2024
AAAS10Jan 26, 2024
AAGAB3Jan 26, 2024
AARS115Jan 26, 2024
AARS27Jan 26, 2024
AASS2Jan 26, 2024
ABCA15Jan 26, 2024
ABCA127Jan 26, 2024
ABCA136Jan 26, 2024
ABCA213Jan 26, 2024
ABCA314Jan 26, 2024
ABCA436Jan 26, 2024
ABCA73Jan 26, 2024
ABCB1120Jan 26, 2024
ABCB416Jan 26, 2024
ABCB61Jan 26, 2024
ABCB71Jan 26, 2024
ABCC210Jan 26, 2024
ABCC626Jan 26, 2024
ABCC824Jan 26, 2024
ABCC97Jan 26, 2024
ABCD1152Jan 26, 2024
ABCD46Jan 26, 2024
ABCG547Jan 26, 2024
ABCG862Jan 26, 2024
ABHD124Jan 26, 2024
ABHD52Jan 26, 2024
ABL15Jan 26, 2024
ACAD88Jan 26, 2024
ACAD917Jan 26, 2024
ACADM31Jan 26, 2024
ACADS15Jan 26, 2024
ACADSB10Jan 26, 2024
ACADVL54Jan 26, 2024
ACAN7Jan 26, 2024
ACAT18Jan 26, 2024
ACBD52Jan 26, 2024
ACBD64Jan 26, 2024
ACD1Jan 26, 2024
ACE6Jan 26, 2024
ACMSD1Jan 26, 2024
ACO22Jan 26, 2024
ACOX15Jan 26, 2024
ACOX22Jan 26, 2024
ACP53Jan 26, 2024
ACSF315Jan 26, 2024
ACSL43Jan 26, 2024
ACSM31Jan 26, 2024
ACTA128Jan 26, 2024
ACTA21Jan 26, 2024
ACTA2-AS11Jan 26, 2024
ACTB4Jan 26, 2024
ACTC12Jan 26, 2024
ACTG12Jan 26, 2024
ACTG22Jan 26, 2024
ACTL6B8Jan 26, 2024
ACTN11Jan 26, 2024
ACTN210Jan 26, 2024
ACTN41Jan 26, 2024
ACVR11Jan 26, 2024
ACVR2B2Jan 26, 2024
ACVRL15Jan 26, 2024
ACYP11Jan 26, 2024
ADA13Jan 26, 2024
ADA24Jan 26, 2024
ADAM102Jan 26, 2024
ADAM222Jan 26, 2024
ADAMTS102Jan 26, 2024
ADAMTS139Jan 26, 2024
ADAMTS171Jan 26, 2024
ADAMTS183Jan 26, 2024
ADAMTS28Jan 26, 2024
ADAMTSL22Jan 26, 2024
ADAMTSL48Jan 26, 2024
ADAMTSL4-AS27Jan 26, 2024
ADAR12Jan 26, 2024
ADARB13Jan 26, 2024
ADAT34Jan 26, 2024
ADCY106Jan 26, 2024
ADCY57Jan 26, 2024
ADCY62Jan 26, 2024
ADGRG14Jan 26, 2024
ADGRG41Jan 26, 2024
ADGRG61Jan 26, 2024
ADGRV112Jan 26, 2024
ADNP18Jan 26, 2024
ADNP-AS11Jan 26, 2024
ADPRS1Jan 26, 2024
ADRA2B6Jan 26, 2024
ADSL11Jan 26, 2024
ADSS119Jan 26, 2024
AEBP14Jan 26, 2024
AFF210Jan 26, 2024
AFF31Jan 26, 2024
AFF44Jan 26, 2024
AFG2A8Jan 26, 2024
AFG2B1Jan 26, 2024
AFG3L27Jan 26, 2024
AGA4Jan 26, 2024
AGA-DT2Jan 26, 2024
AGBL51Jan 26, 2024
AGK2Jan 26, 2024
AGL33Jan 26, 2024
AGMO1Jan 26, 2024
AGO11Jan 26, 2024
AGO22Jan 26, 2024
AGRN41Jan 26, 2024
AGT4Jan 26, 2024
AGTPBP16Jan 26, 2024
AGTR25Jan 26, 2024
AGXT22Jan 26, 2024
AHCY3Jan 26, 2024
AHDC120Jan 26, 2024
AHI114Jan 26, 2024
AIFM14Jan 26, 2024
AIMP11Jan 26, 2024
AIP1Jan 26, 2024
AIPL13Jan 26, 2024
AIRE10Jan 26, 2024
AK111Jan 26, 2024
AK21Jan 26, 2024
AKAP911Jan 26, 2024
AKR1C21Jan 26, 2024
AKR1D12Jan 26, 2024
AKT23Jan 26, 2024
AKT31Jan 26, 2024
ALAD2Jan 26, 2024
ALAS222Jan 26, 2024
ALDH18A113Jan 26, 2024
ALDH1A31Jan 26, 2024
ALDH1A3-AS11Jan 26, 2024
ALDH3A25Jan 26, 2024
ALDH4A13Jan 26, 2024
ALDH5A111Jan 26, 2024
ALDH6A11Jan 26, 2024
ALDH7A125Jan 26, 2024
ALDOA22Jan 26, 2024
ALDOB5Jan 26, 2024
ALG17Jan 26, 2024
ALG113Jan 26, 2024
ALG125Jan 26, 2024
ALG1312Jan 26, 2024
ALG143Jan 26, 2024
ALG14-AS12Jan 26, 2024
ALG66Jan 26, 2024
ALG88Jan 26, 2024
ALK15Jan 26, 2024
ALMS112Jan 26, 2024
ALOX12B1Jan 26, 2024
ALOX151Jan 26, 2024
ALOXE34Jan 26, 2024
ALPK314Jan 26, 2024
ALPL15Jan 26, 2024
ALS27Jan 26, 2024
ALX41Jan 26, 2024
AMACR2Jan 26, 2024
AMELX1Jan 26, 2024
AMER110Jan 26, 2024
AMH2Jan 26, 2024
AMN2Jan 26, 2024
AMPD156Jan 26, 2024
AMPD21Jan 26, 2024
AMT9Jan 26, 2024
ANAPC12Jan 26, 2024
ANAPC151Jan 26, 2024
ANG1Jan 26, 2024
ANGPT21Jan 26, 2024
ANGPTL31Jan 26, 2024
ANK1199Jan 26, 2024
ANK29Jan 26, 2024
ANK313Jan 26, 2024
ANKH1Jan 26, 2024
ANKRD11Jan 26, 2024
ANKRD1137Jan 26, 2024
ANKRD173Jan 26, 2024
ANKRD264Jan 26, 2024
ANKS63Jan 26, 2024
ANLN2Jan 26, 2024
ANO104Jan 26, 2024
ANO35Jan 26, 2024
ANO5139Jan 26, 2024
ANO63Jan 26, 2024
ANOS11Jan 26, 2024
ANTXR23Jan 26, 2024
ANXA111Jan 26, 2024
AOC11Jan 26, 2024
AOPEP10Jan 26, 2024
AP1G11Jan 26, 2024
AP1S31Jan 26, 2024
AP2M12Jan 26, 2024
AP3B13Jan 26, 2024
AP3B27Jan 26, 2024
AP3D11Jan 26, 2024
AP4B14Jan 26, 2024
AP4B1-AS15Jan 26, 2024
AP4E13Jan 26, 2024
AP4M14Jan 26, 2024
AP4S12Jan 26, 2024
AP5Z112Jan 26, 2024
APBA21Jan 26, 2024
APBB12Jan 26, 2024
APC32Jan 26, 2024
APC28Jan 26, 2024
APOA13Jan 26, 2024
APOA1-AS2Jan 26, 2024
APOA21Jan 26, 2024
APOA52Jan 26, 2024
APOB24Jan 26, 2024
APOE1Jan 26, 2024
APP1Jan 26, 2024
APRT4Jan 26, 2024
APTX4Jan 26, 2024
AQP41Jan 26, 2024
AR8Jan 26, 2024
ARCN13Jan 26, 2024
ARF11Jan 26, 2024
ARFGEF13Jan 26, 2024
ARFGEF1-DT3Jan 26, 2024
ARFGEF26Jan 26, 2024
ARG15Jan 26, 2024
ARHGAP242Jan 26, 2024
ARHGAP3112Jan 26, 2024
ARHGAP61Jan 26, 2024
ARHGEF11Jan 26, 2024
ARHGEF103Jan 26, 2024
ARHGEF151Jan 26, 2024
ARHGEF181Jan 26, 2024
ARHGEF21Jan 26, 2024
ARHGEF61Jan 26, 2024
ARHGEF95Jan 26, 2024
ARID1A16Jan 26, 2024
ARID1B57Jan 26, 2024
ARID212Jan 26, 2024
ARL13B4Jan 26, 2024
ARL62Jan 26, 2024
ARMC52Jan 26, 2024
ARMC93Jan 26, 2024
ARSA24Jan 26, 2024
ARSB28Jan 26, 2024
ARSL4Jan 26, 2024
ARV11Jan 26, 2024
ARX11Jan 26, 2024
ASAH119Jan 26, 2024
ASCC11Jan 26, 2024
ASCL11Jan 26, 2024
ASH1L37Jan 26, 2024
ASIC4-AS121Jan 26, 2024
ASL14Jan 26, 2024
ASMT4Jan 26, 2024
ASNS12Jan 26, 2024
ASPA7Jan 26, 2024
ASPM56Jan 26, 2024
ASS122Jan 26, 2024
ASTN276Jan 26, 2024
ASXL112Jan 26, 2024
ASXL211Jan 26, 2024
ASXL335Jan 26, 2024
ATAD3A8Jan 26, 2024
ATAD3B1Jan 26, 2024
ATCAY2Jan 26, 2024
ATIC2Jan 26, 2024
ATL110Jan 26, 2024
ATL32Jan 26, 2024
ATM96Jan 26, 2024
ATN114Jan 26, 2024
ATP10A4Jan 26, 2024
ATP11C18Jan 26, 2024
ATP13A210Jan 26, 2024
ATP13A41Jan 26, 2024
ATP1A11Jan 26, 2024
ATP1A1-AS11Jan 26, 2024
ATP1A213Jan 26, 2024
ATP1A314Jan 26, 2024
ATP1A41Jan 26, 2024
ATP2A1107Jan 26, 2024
ATP2A1-AS13Jan 26, 2024
ATP2A23Jan 26, 2024
ATP2B11Jan 26, 2024
ATP2B21Jan 26, 2024
ATP2B33Jan 26, 2024
ATP2B45Jan 26, 2024
ATP2C11Jan 26, 2024
ATP5F1A1Jan 26, 2024
ATP5F1D2Jan 26, 2024
ATP6AP15Jan 26, 2024
ATP6AP21Jan 26, 2024
ATP6V0A26Jan 26, 2024
ATP6V0A46Jan 26, 2024
ATP6V1A4Jan 26, 2024
ATP6V1B19Jan 26, 2024
ATP6V1B1-AS11Jan 26, 2024
ATP6V1B23Jan 26, 2024
ATP7A14Jan 26, 2024
ATP7B63Jan 26, 2024
ATP8A28Jan 26, 2024
ATP8B19Jan 26, 2024
ATP8B1-AS13Jan 26, 2024
ATP9A1Jan 26, 2024
ATPAF21Jan 26, 2024
ATR8Jan 26, 2024
ATRIP16Jan 26, 2024
ATRIP-TREX116Jan 26, 2024
ATRX25Jan 26, 2024
ATXN11Jan 26, 2024
ATXN21Jan 26, 2024
ATXN7L3-AS14Jan 26, 2024
AUH4Jan 26, 2024
AUTS227Jan 26, 2024
AVIL4Jan 26, 2024
AVP1Jan 26, 2024
AVPR24Jan 26, 2024
AXDND15Jan 26, 2024
AXIN27Jan 26, 2024
B3GALNT244Jan 26, 2024
B3GALT65Jan 26, 2024
B3GLCT2Jan 26, 2024
B3GNT41Jan 26, 2024
B4GALNT42Jan 26, 2024
B4GALT11Jan 26, 2024
B4GALT75Jan 26, 2024
B4GAT12Jan 26, 2024
BAG352Jan 26, 2024
BAIAP2L11Jan 26, 2024
BANK11Jan 26, 2024
BAP15Jan 26, 2024
BARD125Jan 26, 2024
BBIP11Jan 26, 2024
BBOF11Jan 26, 2024
BBS18Jan 26, 2024
BBS1013Jan 26, 2024
BBS128Jan 26, 2024
BBS24Jan 26, 2024
BBS411Jan 26, 2024
BBS52Jan 26, 2024
BBS73Jan 26, 2024
BBS92Jan 26, 2024
BCAP312Jan 26, 2024
BCHE14Jan 26, 2024
BCKDHA13Jan 26, 2024
BCKDHB11Jan 26, 2024
BCKDK1Jan 26, 2024
BCL11A6Jan 26, 2024
BCL11B3Jan 26, 2024
BCL2L2-PABPN118Jan 26, 2024
BCL31Jan 26, 2024
BCL9L1Jan 26, 2024
BCOR10Jan 26, 2024
BCORL111Jan 26, 2024
BCS1L7Jan 26, 2024
BDP11Jan 26, 2024
BEST18Jan 26, 2024
BFSP22Jan 26, 2024
BGN5Jan 26, 2024
BICC11Jan 26, 2024
BICD29Jan 26, 2024
BICRA5Jan 26, 2024
BIN131Jan 26, 2024
BIVM-ERCC56Jan 26, 2024
BLK1Jan 26, 2024
BLM30Jan 26, 2024
BLNK1Jan 26, 2024
BLOC1S1-RDH54Jan 26, 2024
BLTP118Jan 26, 2024
BMP12Jan 26, 2024
BMP152Jan 26, 2024
BMP24Jan 26, 2024
BMP43Jan 26, 2024
BMP71Jan 26, 2024
BMPER7Jan 26, 2024
BMPR1A8Jan 26, 2024
BMPR1B1Jan 26, 2024
BMPR22Jan 26, 2024
BNAT11Jan 26, 2024
BOLA34Jan 26, 2024
BPGM1Jan 26, 2024
BPTF9Jan 26, 2024
BRAF10Jan 26, 2024
BRAT125Jan 26, 2024
BRCA1134Jan 26, 2024
BRCA2219Jan 26, 2024
BRF12Jan 26, 2024
BRI31Jan 26, 2024
BRIP141Jan 26, 2024
BRPF19Jan 26, 2024
BRSK27Jan 26, 2024
BRWD12Jan 26, 2024
BRWD310Jan 26, 2024
BSCL26Jan 26, 2024
BSND3Jan 26, 2024
BTD22Jan 26, 2024
BTK2Jan 26, 2024
BTNL21Jan 26, 2024
BUB1B4Jan 26, 2024
C10orf1054Jan 26, 2024
C10orf552Jan 26, 2024
C11orf6537Jan 26, 2024
C12orf571Jan 26, 2024
C12orf603Jan 26, 2024
C14orf391Jan 26, 2024
C17orf10753Jan 26, 2024
C19orf125Jan 26, 2024
C1QBP2Jan 26, 2024
C1QTNF3-AMACR2Jan 26, 2024
C1R3Jan 26, 2024
C1S5Jan 26, 2024
C1orf1052Jan 26, 2024
C2CD35Jan 26, 2024
C2orf491Jan 26, 2024
C31Jan 26, 2024
C3orf801Jan 26, 2024
C61Jan 26, 2024
C8B3Jan 26, 2024
C92Jan 26, 2024
C9orf721Jan 26, 2024
CA121Jan 26, 2024
CA5A6Jan 26, 2024
CABP22Jan 26, 2024
CACNA1A56Jan 26, 2024
CACNA1B16Jan 26, 2024
CACNA1C14Jan 26, 2024
CACNA1C-AS16Jan 26, 2024
CACNA1D24Jan 26, 2024
CACNA1E14Jan 26, 2024
CACNA1F2Jan 26, 2024
CACNA1G18Jan 26, 2024
CACNA1H18Jan 26, 2024
CACNA1I2Jan 26, 2024
CACNA1S36Jan 26, 2024
CACNA2D26Jan 26, 2024
CACNA2D43Jan 26, 2024
CACNB25Jan 26, 2024
CACNB41Jan 26, 2024
CACNG21Jan 26, 2024
CAD5Jan 26, 2024
CADM31Jan 26, 2024
CADM3-AS11Jan 26, 2024
CALM11Jan 26, 2024
CAMK2A4Jan 26, 2024
CAMK2B3Jan 26, 2024
CAMK41Jan 26, 2024
CAMTA117Jan 26, 2024
CANT13Jan 26, 2024
CAP21Jan 26, 2024
CAPN14Jan 26, 2024
CAPN3191Jan 26, 2024
CAPN51Jan 26, 2024
CAPRIN11Jan 26, 2024
CARD114Jan 26, 2024
CARD141Jan 26, 2024
CARMIL24Jan 26, 2024
CARS25Jan 26, 2024
CASD133Jan 26, 2024
CASK9Jan 26, 2024
CASK-AS11Jan 26, 2024
CASP107Jan 26, 2024
CASP81Jan 26, 2024
CASQ111Jan 26, 2024
CASQ27Jan 26, 2024
CASR13Jan 26, 2024
CAST1Jan 26, 2024
CASTOR31Jan 26, 2024
CAT1Jan 26, 2024
CATIP-AS25Jan 26, 2024
CATSPER21Jan 26, 2024
CAV315Jan 26, 2024
CAVIN111Jan 26, 2024
CAVIN41Jan 26, 2024
CBL20Jan 26, 2024
CBS21Jan 26, 2024
CC2D1A13Jan 26, 2024
CC2D2A31Jan 26, 2024
CCBE12Jan 26, 2024
CCDC1071Jan 26, 2024
CCDC1151Jan 26, 2024
CCDC1411Jan 26, 2024
CCDC1741Jan 26, 2024
CCDC2211Jan 26, 2024
CCDC399Jan 26, 2024
CCDC4015Jan 26, 2024
CCDC651Jan 26, 2024
CCDC661Jan 26, 2024
CCDC788Jan 26, 2024
CCDC81Jan 26, 2024
CCDC85C1Jan 26, 2024
CCDC88A2Jan 26, 2024
CCDC88C8Jan 26, 2024
CCDST11Jan 26, 2024
CCM21Jan 26, 2024
CCN62Jan 26, 2024
CCND22Jan 26, 2024
CCNH6Jan 26, 2024
CCNK1Jan 26, 2024
CCNO2Jan 26, 2024
CCNT2-AS11Jan 26, 2024
CCPG11Jan 26, 2024
CCT53Jan 26, 2024
CD1511Jan 26, 2024
CD191Jan 26, 2024
CD271Jan 26, 2024
CD27-AS11Jan 26, 2024
CD2AP2Jan 26, 2024
CD3202Jan 26, 2024
CD3616Jan 26, 2024
CD3D1Jan 26, 2024
CD3E3Jan 26, 2024
CD40LG1Jan 26, 2024
CD462Jan 26, 2024
CD51Jan 26, 2024
CD633Jan 26, 2024
CD812Jan 26, 2024
CD962Jan 26, 2024
CDAN181Jan 26, 2024
CDC42BPB5Jan 26, 2024
CDC451Jan 26, 2024
CDC731Jan 26, 2024
CDCA71Jan 26, 2024
CDH112Jan 26, 2024
CDH131Jan 26, 2024
CDH158Jan 26, 2024
CDH22Jan 26, 2024
CDH2324Jan 26, 2024
CDH23-AS11Jan 26, 2024
CDH32Jan 26, 2024
CDH3-AS11Jan 26, 2024
CDH51Jan 26, 2024
CDIN14Jan 26, 2024
CDK102Jan 26, 2024
CDK1312Jan 26, 2024
CDK5RAP214Jan 26, 2024
CDK83Jan 26, 2024
CDKL510Jan 26, 2024
CDKN1B1Jan 26, 2024
CDKN1C10Jan 26, 2024
CDKN2A7Jan 26, 2024
CDON5Jan 26, 2024
CDT13Jan 26, 2024
CEBPA4Jan 26, 2024
CEBPE4Jan 26, 2024
CEL3Jan 26, 2024
CELF41Jan 26, 2024
CELSR32Jan 26, 2024
CENPE1Jan 26, 2024
CENPF4Jan 26, 2024
CEP1047Jan 26, 2024
CEP1203Jan 26, 2024
CEP1282Jan 26, 2024
CEP1354Jan 26, 2024
CEP15211Jan 26, 2024
CEP1643Jan 26, 2024
CEP29040Jan 26, 2024
CEP411Jan 26, 2024
CEP554Jan 26, 2024
CEP571Jan 26, 2024
CEP633Jan 26, 2024
CEP781Jan 26, 2024
CEP85L7Jan 26, 2024
CEP891Jan 26, 2024
CERKL6Jan 26, 2024
CERS110Jan 26, 2024
CERT17Jan 26, 2024
CETP7Jan 26, 2024
CFAP2981Jan 26, 2024
CFAP298-TCP10L1Jan 26, 2024
CFAP471Jan 26, 2024
CFAP582Jan 26, 2024
CFAP923Jan 26, 2024
CFB1Jan 26, 2024
CFH10Jan 26, 2024
CFHR21Jan 26, 2024
CFHR54Jan 26, 2024
CFI3Jan 26, 2024
CFL24Jan 26, 2024
CFTR89Jan 26, 2024
CFTR-AS19Jan 26, 2024
CHAMP110Jan 26, 2024
CHAT50Jan 26, 2024
CHCHD103Jan 26, 2024
CHCHD21Jan 26, 2024
CHD116Jan 26, 2024
CHD1L4Jan 26, 2024
CHD230Jan 26, 2024
CHD314Jan 26, 2024
CHD47Jan 26, 2024
CHD748Jan 26, 2024
CHD825Jan 26, 2024
CHEK231Jan 26, 2024
CHIT11Jan 26, 2024
CHKB4Jan 26, 2024
CHKB-CPT1B5Jan 26, 2024
CHMP1A1Jan 26, 2024
CHMP2B2Jan 26, 2024
CHN11Jan 26, 2024
CHPT11Jan 26, 2024
CHRNA138Jan 26, 2024
CHRNA27Jan 26, 2024
CHRNA417Jan 26, 2024
CHRNA71Jan 26, 2024
CHRNB140Jan 26, 2024
CHRNB24Jan 26, 2024
CHRND43Jan 26, 2024
CHRNE94Jan 26, 2024
CHRNG12Jan 26, 2024
CHROMR1Jan 26, 2024
CHST143Jan 26, 2024
CHST61Jan 26, 2024
CHSY12Jan 26, 2024
CIB22Jan 26, 2024
CIC13Jan 26, 2024
CIITA3Jan 26, 2024
CIT5Jan 26, 2024
CITED22Jan 26, 2024
CIZ14Jan 26, 2024
CKAP2L4Jan 26, 2024
CKM1Jan 26, 2024
CLASP11Jan 26, 2024
CLCC11Jan 26, 2024
CLCN1160Jan 26, 2024
CLCN210Jan 26, 2024
CLCN35Jan 26, 2024
CLCN46Jan 26, 2024
CLCN55Jan 26, 2024
CLCN62Jan 26, 2024
CLCN75Jan 26, 2024
CLCNKA2Jan 26, 2024
CLCNKB1Jan 26, 2024
CLDN11Jan 26, 2024
CLDN164Jan 26, 2024
CLHC11Jan 26, 2024
CLIP11Jan 26, 2024
CLN33Jan 26, 2024
CLN513Jan 26, 2024
CLN612Jan 26, 2024
CLN86Jan 26, 2024
CLP11Jan 26, 2024
CLPB12Jan 26, 2024
CLRN12Jan 26, 2024
CLRN1-AS12Jan 26, 2024
CLTC4Jan 26, 2024
CLTCL11Jan 26, 2024
CNBP1Jan 26, 2024
CNGA13Jan 26, 2024
CNGA37Jan 26, 2024
CNGB14Jan 26, 2024
CNGB36Jan 26, 2024
CNKSR11Jan 26, 2024
CNKSR25Jan 26, 2024
CNNM25Jan 26, 2024
CNOT17Jan 26, 2024
CNOT21Jan 26, 2024
CNOT35Jan 26, 2024
CNPY31Jan 26, 2024
CNPY3-GNMT1Jan 26, 2024
CNTN12Jan 26, 2024
CNTN22Jan 26, 2024
CNTN41Jan 26, 2024
CNTN4-AS11Jan 26, 2024
CNTNAP18Jan 26, 2024
CNTNAP228Jan 26, 2024
CNTNAP55Jan 26, 2024
COA82Jan 26, 2024
COASY3Jan 26, 2024
COCH1Jan 26, 2024
COG13Jan 26, 2024
COG21Jan 26, 2024
COG410Jan 26, 2024
COG52Jan 26, 2024
COG65Jan 26, 2024
COG74Jan 26, 2024
COG83Jan 26, 2024
COL10A13Jan 26, 2024
COL11A128Jan 26, 2024
COL11A224Jan 26, 2024
COL12A1254Jan 26, 2024
COL13A110Jan 26, 2024
COL17A15Jan 26, 2024
COL18A112Jan 26, 2024
COL1A145Jan 26, 2024
COL1A234Jan 26, 2024
COL25A11Jan 26, 2024
COL27A17Jan 26, 2024
COL2A127Jan 26, 2024
COL3A112Jan 26, 2024
COL4A162Jan 26, 2024
COL4A211Jan 26, 2024
COL4A2-AS13Jan 26, 2024
COL4A2-AS21Jan 26, 2024
COL4A324Jan 26, 2024
COL4A421Jan 26, 2024
COL4A515Jan 26, 2024
COL4A63Jan 26, 2024
COL5A122Jan 26, 2024
COL5A1-AS11Jan 26, 2024
COL5A214Jan 26, 2024
COL6A1200Jan 26, 2024
COL6A2251Jan 26, 2024
COL6A3393Jan 26, 2024
COL6A62Jan 26, 2024
COL7A123Jan 26, 2024
COL9A17Jan 26, 2024
COL9A23Jan 26, 2024
COL9A37Jan 26, 2024
COLEC111Jan 26, 2024
COLGALT13Jan 26, 2024
COLQ42Jan 26, 2024
COMP4Jan 26, 2024
COQ28Jan 26, 2024
COQ43Jan 26, 2024
COQ62Jan 26, 2024
COQ8A9Jan 26, 2024
COQ8B4Jan 26, 2024
COQ94Jan 26, 2024
CORO1A2Jan 26, 2024
COX105Jan 26, 2024
COX151Jan 26, 2024
COX4I22Jan 26, 2024
CP8Jan 26, 2024
CPA11Jan 26, 2024
CPA64Jan 26, 2024
CPAMD81Jan 26, 2024
CPAP9Jan 26, 2024
CPEB1-AS17Jan 26, 2024
CPLANE118Jan 26, 2024
CPOX3Jan 26, 2024
CPS120Jan 26, 2024
CPSF11Jan 26, 2024
CPT1A9Jan 26, 2024
CPT1B1Jan 26, 2024
CPT1C1Jan 26, 2024
CPT239Jan 26, 2024
CPZ2Jan 26, 2024
CR11Jan 26, 2024
CR25Jan 26, 2024
CRADD2Jan 26, 2024
CRAT2Jan 26, 2024
CRB116Jan 26, 2024
CRB210Jan 26, 2024
CRBN1Jan 26, 2024
CREB3L12Jan 26, 2024
CREBBP32Jul 29, 2024
CRELD15Jan 26, 2024
CRLF11Jan 26, 2024
CRPPA46Jan 26, 2024
CRPPA-AS113Jan 26, 2024
CRTAP4Jan 26, 2024
CRYAA2Jan 26, 2024
CRYAB15Jan 26, 2024
CRYBA11Jan 26, 2024
CRYBA41Jan 26, 2024
CRYBB11Jan 26, 2024
CRYBB23Jan 26, 2024
CRYGC1Jan 26, 2024
CRYGS1Jan 26, 2024
CRYM1Jan 26, 2024
CSF1R5Jan 26, 2024
CSF2RB2Jan 26, 2024
CSF3R5Jan 26, 2024
CSMD122Jan 26, 2024
CSMD31Jan 26, 2024
CSNK2A16Jan 26, 2024
CSNK2B1Jan 26, 2024
CSPP114Jan 26, 2024
CSRP33Jan 26, 2024
CST31Jan 26, 2024
CSTB4Jan 26, 2024
CTBP19Jan 26, 2024
CTBP1-AS6Jan 26, 2024
CTC112Jan 26, 2024
CTCF5Jan 26, 2024
CTDP13Jan 26, 2024
CTLA41Jan 26, 2024
CTNNA310Jan 26, 2024
CTNNB12Jan 26, 2024
CTNND12Jan 26, 2024
CTNND26Jan 26, 2024
CTNS5Jan 26, 2024
CTNS-AS12Jan 26, 2024
CTRC2Jan 26, 2024
CTSA1Jan 26, 2024
CTSC1Jan 26, 2024
CTSD4Jan 26, 2024
CTSF5Jan 26, 2024
CTSK1Jan 26, 2024
CTTNBP21Jan 26, 2024
CTU21Jan 26, 2024
CUBN19Jan 26, 2024
CUL35Jan 26, 2024
CUL4B3Jan 26, 2024
CUL75Jan 26, 2024
CUX114Jan 26, 2024
CUX218Jan 26, 2024
CWF19L11Jan 26, 2024
CYB561D21Jan 26, 2024
CYB5R322Jan 26, 2024
CYBA3Jan 26, 2024
CYBB3Jan 26, 2024
CYC11Jan 26, 2024
CYFIP27Jan 26, 2024
CYLD2Jan 26, 2024
CYP11A12Jan 26, 2024
CYP11B14Jan 26, 2024
CYP17A13Jan 26, 2024
CYP17A1-AS11Jan 26, 2024
CYP1B112Jan 26, 2024
CYP21A28Jan 26, 2024
CYP24A19Jan 26, 2024
CYP27A117Jan 26, 2024
CYP27B16Jan 26, 2024
CYP2R11Jan 26, 2024
CYP2U12Jan 26, 2024
CYP4F221Jan 26, 2024
CYP4V22Jan 26, 2024
CYP7B15Jan 26, 2024
CZ1P-ASNS12Jan 26, 2024
DAB13Jan 26, 2024
DAG195Jan 26, 2024
DALRD31Jan 26, 2024
DAO3Jan 26, 2024
DARS11Jan 26, 2024
DARS22Jan 26, 2024
DBH3Jan 26, 2024
DBNL4Jan 26, 2024
DBT9Jan 26, 2024
DCAF172Jan 26, 2024
DCAF61Jan 26, 2024
DCAF81Jan 26, 2024
DCC3Jan 26, 2024
DCDC24Jan 26, 2024
DCHS115Jan 26, 2024
DCLRE1C3Jan 26, 2024
DCT1Jan 26, 2024
DCTN110Jan 26, 2024
DCTN51Jan 26, 2024
DCX3Jan 26, 2024
DDC6Jan 26, 2024
DDC-AS14Jan 26, 2024
DDHD22Jan 26, 2024
DDR24Jan 26, 2024
DDX112Jan 26, 2024
DDX3X8Jan 26, 2024
DDX411Jan 26, 2024
DDX531Jan 26, 2024
DDX591Jan 26, 2024
DDX61Jan 26, 2024
DEAF113Jan 26, 2024
DEGS11Jan 26, 2024
DENND5A4Jan 26, 2024
DEPDC525Jan 26, 2024
DES70Jan 26, 2024
DGAT12Jan 26, 2024
DGKE1Jan 26, 2024
DGUOK8Jan 26, 2024
DGUOK-AS11Jan 26, 2024
DHCR242Jan 26, 2024
DHCR719Jan 26, 2024
DHDDS10Jan 26, 2024
DHH1Jan 26, 2024
DHODH3Jan 26, 2024
DHTKD16Jan 26, 2024
DHX166Jan 26, 2024
DHX3011Jan 26, 2024
DHX381Jan 26, 2024
DIABLO2Jan 26, 2024
DIAPH19Jan 26, 2024
DIAPH34Jan 26, 2024
DIAPH3-AS11Jan 26, 2024
DICER19Jan 26, 2024
DIDO11Jan 26, 2024
DIP2A6Jan 26, 2024
DIP2B9Jan 26, 2024
DIPK1A10Jan 26, 2024
DIS3L210Jan 26, 2024
DISC12Jan 26, 2024
DISP13Jan 26, 2024
DISP31Jan 26, 2024
DLAT4Jan 26, 2024
DLD9Jan 26, 2024
DLG22Jan 26, 2024
DLG37Jan 26, 2024
DLG3-AS11Jan 26, 2024
DLG45Jan 26, 2024
DLL19Jan 26, 2024
DLL35Jan 26, 2024
DLST1Jan 26, 2024
DM1-AS4Jan 26, 2024
DMD447Jan 26, 2024
DMP12Jan 26, 2024
DMPK7Jan 26, 2024
DMXL29Jan 26, 2024
DNA28Jan 26, 2024
DNAAF14Jan 26, 2024
DNAAF112Jan 26, 2024
DNAAF192Jan 26, 2024
DNAAF24Jan 26, 2024
DNAAF37Jan 26, 2024
DNAAF3-AS16Jan 26, 2024
DNAAF41Jan 26, 2024
DNAAF4-CCPG12Jan 26, 2024
DNAAF52Jan 26, 2024
DNAAF61Jan 26, 2024
DNAH113Jan 26, 2024
DNAH1139Jan 26, 2024
DNAH143Jan 26, 2024
DNAH540Jan 26, 2024
DNAH62Jan 26, 2024
DNAH87Jan 26, 2024
DNAH915Jan 26, 2024
DNAI15Jan 26, 2024
DNAI24Jan 26, 2024
DNAJB112Jan 26, 2024
DNAJB132Jan 26, 2024
DNAJB23Jan 26, 2024
DNAJB644Jan 26, 2024
DNAJC122Jan 26, 2024
DNAJC193Jan 26, 2024
DNAJC31Jan 26, 2024
DNAJC53Jan 26, 2024
DNAJC92Jan 26, 2024
DNASE1L11Jan 26, 2024
DNASE21Jan 26, 2024
DNHD13Jan 26, 2024
DNM118Jan 26, 2024
DNM1L5Jan 26, 2024
DNM262Jan 26, 2024
DNMT15Jan 26, 2024
DNMT3A9Jan 26, 2024
DNMT3B3Jan 26, 2024
DOCK11Jan 26, 2024
DOCK23Jan 26, 2024
DOCK31Jan 26, 2024
DOCK41Jan 26, 2024
DOCK614Jan 26, 2024
DOCK6-AS15Jan 26, 2024
DOCK710Jan 26, 2024
DOCK816Jan 26, 2024
DOK7101Oct 11, 2024
DOLK4Jan 26, 2024
DONSON2Jan 26, 2024
DOP1A2Jan 26, 2024
DOP1B2Jan 26, 2024
DPAGT18Jan 26, 2024
DPF22Jan 26, 2024
DPH14Jan 26, 2024
DPH51Jan 26, 2024
DPM12Jan 26, 2024
DPM33Jan 26, 2024
DPP63Jan 26, 2024
DPY19L21Jan 26, 2024
DPYD8Jan 26, 2024
DPYD-AS11Jan 26, 2024
DPYS3Jan 26, 2024
DPYSL51Jan 26, 2024
DRAM21Jan 26, 2024
DRC11Jan 26, 2024
DRD41Jan 26, 2024
DRGX1Jan 26, 2024
DRP22Jan 26, 2024
DSC210Jan 26, 2024
DSCAM5Jan 26, 2024
DSCAS1Jan 26, 2024
DSE1Jan 26, 2024
DSG13Jan 26, 2024
DSG1-AS14Jan 26, 2024
DSG24Jan 26, 2024
DSG2-AS13Jan 26, 2024
DSG41Jan 26, 2024
DSP17Jan 26, 2024
DSP-AS11Jan 26, 2024
DSPP4Jan 26, 2024
DST5Jan 26, 2024
DSTYK3Jan 26, 2024
DTNA5Jan 26, 2024
DUOX229Jan 26, 2024
DUSP293Jan 26, 2024
DVL14Jan 26, 2024
DVL21Jan 26, 2024
DVL32Jan 26, 2024
DYM1Jan 26, 2024
DYNC1H143Jan 26, 2024
DYNC1I23Jan 26, 2024
DYNC2H129Jan 26, 2024
DYNC2I13Jan 26, 2024
DYNC2I25Jan 26, 2024
DYNC2LI134Jan 26, 2024
DYNLT2B1Jan 26, 2024
DYRK1A12Jan 26, 2024
DYRK1B3Jan 26, 2024
DYSF430Jan 26, 2024
EARS23Jul 29, 2024
EBF311Jan 26, 2024
EBP2Jan 26, 2024
ECE11Jan 26, 2024
ECEL19Jan 26, 2024
ECHS112Jan 26, 2024
ECI11Jan 26, 2024
ECM12Jan 26, 2024
EDA5Jan 26, 2024
EDAR3Jan 26, 2024
EDARADD1Jan 26, 2024
EDN32Jan 26, 2024
EEF1A27Jan 26, 2024
EEF21Jan 26, 2024
EFEMP13Jan 26, 2024
EFEMP24Jan 26, 2024
EFHC16Jan 26, 2024
EFHC21Jan 26, 2024
EFNB12Jan 26, 2024
EFR3A2Jan 26, 2024
EFTUD210Jan 26, 2024
EGFR7Jan 26, 2024
EGILA1Jan 26, 2024
EGLN13Jan 26, 2024
EGR26Jan 26, 2024
EHHADH1Jan 26, 2024
EHMT124Jan 26, 2024
EIF2AK11Jan 26, 2024
EIF2AK24Jan 26, 2024
EIF2AK31Jan 26, 2024
EIF2AK42Jan 26, 2024
EIF2B13Jan 26, 2024
EIF2B22Jan 26, 2024
EIF2B31Jan 26, 2024
EIF2B42Jan 26, 2024
EIF2B56Jan 26, 2024
EIF3F1Jan 26, 2024
EIF4G12Jan 26, 2024
ELAC26Jan 26, 2024
ELANE3Jan 26, 2024
ELN11Jan 26, 2024
ELN-AS13Jan 26, 2024
ELOVL42Jan 26, 2024
ELOVL52Jan 26, 2024
ELP12Jan 26, 2024
ELP25Jan 26, 2024
EMC16Jan 26, 2024
EMC1-AS14Jan 26, 2024
EMD21Jan 26, 2024
EME21Jan 26, 2024
EMP21Jan 26, 2024
ENAM2Jan 26, 2024
ENG2Jan 26, 2024
ENPP19Jan 26, 2024
ENTPD52Jan 26, 2024
EOGT1Jan 26, 2024
EP30019Jan 26, 2024
EPAS14Jan 26, 2024
EPB4122Jan 26, 2024
EPB41L4A1Jan 26, 2024
EPB4237Jan 26, 2024
EPCAM5Jan 26, 2024
EPG520Jan 26, 2024
EPHA22Jan 26, 2024
EPHA71Jan 26, 2024
EPHB46Jan 26, 2024
EPM2A5Jan 26, 2024
EPM2A-DT2Jan 26, 2024
EPO2Jan 26, 2024
EPRS12Jan 26, 2024
EPS82Jan 26, 2024
ERBB36Jan 26, 2024
ERBB45Jan 26, 2024
ERBIN1Jan 26, 2024
ERCC12Jan 26, 2024
ERCC29Jan 26, 2024
ERCC35Jan 26, 2024
ERCC412Jan 26, 2024
ERCC56Jan 26, 2024
ERCC626Jan 26, 2024
ERCC6L22Jan 26, 2024
ERCC87Jan 26, 2024
ERCC8-AS11Jan 26, 2024
ERLIN11Jan 26, 2024
ERMARD1Jan 26, 2024
ESCO210Jan 26, 2024
ESPN7Jan 26, 2024
ESR114Jan 26, 2024
ESRP21Jan 26, 2024
ETFA5Jan 26, 2024
ETFB5Jan 26, 2024
ETFDH14Jan 26, 2024
ETHE14Jan 26, 2024
ETV62Jan 26, 2024
EVC11Jan 26, 2024
EVC212Jan 26, 2024
EVI2A1Jan 26, 2024
EXOC6B1Jan 26, 2024
EXOC81Jan 26, 2024
EXOSC34Jan 26, 2024
EXOSC82Jan 26, 2024
EXOSC91Jan 26, 2024
EXPH51Jan 26, 2024
EXT12Jan 26, 2024
EXT28Jan 26, 2024
EYA11Jan 26, 2024
EYA45Jan 26, 2024
EYS36Jul 29, 2024
EZH26Jan 26, 2024
F1119Jan 26, 2024
F11-AS13Jan 26, 2024
F123Jan 26, 2024
F13A12Jan 26, 2024
F13B1Jan 26, 2024
F23Jan 26, 2024
F56Jan 26, 2024
F75Jan 26, 2024
F812Jan 26, 2024
F93Jan 26, 2024
FA2H5Jan 26, 2024
FAH8Jan 26, 2024
FAM111A4Jan 26, 2024
FAM131B1Jan 26, 2024
FAM149B12Jan 26, 2024
FAM161A7Jan 26, 2024
FAM20A2Jan 26, 2024
FAM20C1Jan 26, 2024
FAM47B1Jan 26, 2024
FAN15Jan 26, 2024
FANCA58Jan 26, 2024
FANCB6Jan 26, 2024
FANCC18Jan 26, 2024
FANCD224Jan 26, 2024
FANCD2OS6Jan 26, 2024
FANCE7Jan 26, 2024
FANCF2Jan 26, 2024
FANCG11Jan 26, 2024
FANCI8Jan 26, 2024
FANCL4Jan 26, 2024
FANCM13Jan 26, 2024
FAR12Jan 26, 2024
FARS22Jan 26, 2024
FAS3Jan 26, 2024
FASLG2Jan 26, 2024
FASN5Jan 26, 2024
FASTKD24Jan 26, 2024
FAT14Jan 26, 2024
FAT25Jan 26, 2024
FAT31Jan 26, 2024
FAT416Jan 26, 2024
FBLN11Jan 26, 2024
FBLN51Jan 26, 2024
FBN158Jan 26, 2024
FBN222Jan 26, 2024
FBN31Jan 26, 2024
FBP13Jan 26, 2024
FBXL37Jan 26, 2024
FBXL413Jan 26, 2024
FBXO117Jan 26, 2024
FBXO385Jan 26, 2024
FBXO73Jan 26, 2024
FBXW114Jan 26, 2024
FCHO11Jan 26, 2024
FCN32Jan 26, 2024
FCSK1Jan 26, 2024
FECH2Jan 26, 2024
FEN11Jan 26, 2024
FERMT11Jan 26, 2024
FERRY31Jan 26, 2024
FEZF21Jan 26, 2024
FGA3Jan 26, 2024
FGB1Jan 26, 2024
FGD18Jan 26, 2024
FGD44Jan 26, 2024
FGF101Jan 26, 2024
FGF123Jan 26, 2024
FGF131Jan 26, 2024
FGF142Jan 26, 2024
FGF31Jan 26, 2024
FGF82Jan 26, 2024
FGFR15Jan 26, 2024
FGFR210Jan 26, 2024
FGFR318Jan 26, 2024
FGFRL12Jan 26, 2024
FGG2Jan 26, 2024
FH12Jan 26, 2024
FHL119Jan 26, 2024
FHL21Jan 26, 2024
FHOD31Jan 26, 2024
FIG413Jan 26, 2024
FIGLA1Jan 26, 2024
FKBP104Jan 26, 2024
FKBP141Jan 26, 2024
FKBP14-AS11Jan 26, 2024
FKRP72Jan 26, 2024
FKTN52Jan 26, 2024
FLAD11Jan 26, 2024
FLCN5Jan 26, 2024
FLG11Jan 26, 2024
FLII1Jan 26, 2024
FLNA34Jan 26, 2024
FLNB23Jan 26, 2024
FLNB-AS13Jan 26, 2024
FLNC282Jan 26, 2024
FLNC-AS188Jan 26, 2024
FLRT31Jan 26, 2024
FLT49Jan 26, 2024
FLVCR13Jan 26, 2024
FLVCR21Jan 26, 2024
FMN11Jan 26, 2024
FMN29Jan 26, 2024
FMO32Jan 26, 2024
FMR13Jan 26, 2024
FN17Jan 26, 2024
FN1-DT1Jan 26, 2024
FOLR11Jan 26, 2024
FOXA21Jan 26, 2024
FOXC14Jan 26, 2024
FOXC23Jan 26, 2024
FOXC2-AS11Jan 26, 2024
FOXE12Jan 26, 2024
FOXE32Jan 26, 2024
FOXF15Jan 26, 2024
FOXG16Jan 26, 2024
FOXH13Jan 26, 2024
FOXI13Jan 26, 2024
FOXL21Jan 26, 2024
FOXN13Jan 26, 2024
FOXP113Jan 26, 2024
FOXP25Jan 26, 2024
FOXP32Jan 26, 2024
FOXRED17Jan 26, 2024
FPR11Jan 26, 2024
FRAS137Jan 26, 2024
FREM18Jan 26, 2024
FREM215Jan 26, 2024
FRK1Jan 26, 2024
FRMD72Jan 26, 2024
FRMPD410Jan 26, 2024
FRRS1L5Jan 26, 2024
FTCD1Jan 26, 2024
FTH11Jan 26, 2024
FTO4Jan 26, 2024
FUCA13Jan 26, 2024
FUS5Jan 26, 2024
FUT81Jan 26, 2024
FXYD21Jan 26, 2024
FXYD6-FXYD21Jan 26, 2024
FYB11Jan 26, 2024
FYCO11Jan 26, 2024
FZD21Jan 26, 2024
FZD43Jan 26, 2024
G6PC119Jan 26, 2024
G6PC32Jan 26, 2024
G6PD38Jan 26, 2024
GAA389Jan 26, 2024
GABBR217Jan 26, 2024
GABRA19Jan 26, 2024
GABRA25Jan 26, 2024
GABRA53Jan 26, 2024
GABRA61Jan 26, 2024
GABRB13Jan 26, 2024
GABRB26Jan 26, 2024
GABRB36Jan 26, 2024
GABRD5Jan 26, 2024
GABRG29Jan 26, 2024
GABRP1Jan 26, 2024
GABRR22Jan 26, 2024
GALC84Jan 26, 2024
GALE2Jan 26, 2024
GALK110Jan 26, 2024
GALNS47Jan 26, 2024
GALNT91Jan 26, 2024
GALT16Jan 26, 2024
GAMT13Jan 26, 2024
GAN4Jan 26, 2024
GANAB3Jan 26, 2024
GAREM23Jan 26, 2024
GARS19Jan 26, 2024
GAS2L21Jan 26, 2024
GAS81Jan 26, 2024
GATA112Jan 26, 2024
GATA24Jan 26, 2024
GATA33Jan 26, 2024
GATA45Jan 26, 2024
GATA58Jan 26, 2024
GATA65Jan 26, 2024
GATAD15Jan 26, 2024
GATAD2B7Jan 26, 2024
GATC1Jan 26, 2024
GBA172Jan 26, 2024
GBA24Jan 26, 2024
GBE118Jan 26, 2024
GBF11Jan 26, 2024
GCDH26Jan 26, 2024
GCGR1Jan 26, 2024
GCH15Jan 26, 2024
GCK10Jan 26, 2024
GCKR1Jan 26, 2024
GCLC16Jan 26, 2024
GCLC-AS17Jan 26, 2024
GCM23Jan 26, 2024
GDAP18Jan 26, 2024
GDF110Jan 26, 2024
GDF23Jan 26, 2024
GDF62Jan 26, 2024
GDI12Jan 26, 2024
GEMIN47Jan 26, 2024
GEMIN55Jan 26, 2024
GFAP6Jan 26, 2024
GFER1Jan 26, 2024
GFI11Jan 26, 2024
GFI1B2Jan 26, 2024
GFM19Jan 26, 2024
GFM22Jan 26, 2024
GFPT12Jan 26, 2024
GH-LCR158Jan 26, 2024
GH11Jan 26, 2024
GHR1Jan 26, 2024
GHRHR4Jan 26, 2024
GHSR3Jan 26, 2024
GIGYF23Jan 26, 2024
GINS11Jan 26, 2024
GIPC31Jan 26, 2024
GJA11Jan 26, 2024
GJA51Jan 26, 2024
GJA82Jan 26, 2024
GJB16Jan 26, 2024
GJB229Jan 26, 2024
GJB37Jan 26, 2024
GJB61Jan 26, 2024
GJC27Jan 26, 2024
GJD2-DT2Jan 26, 2024
GK1Jan 26, 2024
GLA147Jan 26, 2024
GLB116Jan 26, 2024
GLDC26Jan 26, 2024
GLDN1Jan 26, 2024
GLE16Jan 26, 2024
GLI12Jan 26, 2024
GLI217Jan 26, 2024
GLI318Jan 26, 2024
GLIS21Jan 26, 2024
GLIS33Jan 26, 2024
GLMN4Jan 26, 2024
GLRA17Jan 26, 2024
GLRX51Jan 26, 2024
GLS4Jan 26, 2024
GLUD13Jan 26, 2024
GLYCTK4Jan 26, 2024
GM2A1Jan 26, 2024
GML2Jan 26, 2024
GMPPA3Jan 26, 2024
GMPPB47Jan 26, 2024
GNAI11Jan 26, 2024
GNAI31Jan 26, 2024
GNAO17Jan 26, 2024
GNAQ1Jan 26, 2024
GNAS5Jan 26, 2024
GNB12Jan 26, 2024
GNB42Jan 26, 2024
GNB52Jan 26, 2024
GNE100Jan 26, 2024
GNMT1Jan 26, 2024
GNPAT2Jan 26, 2024
GNPTAB16Jan 26, 2024
GNPTG4Jan 26, 2024
GNRHR2Jan 26, 2024
GNS2Jan 26, 2024
GOLGA51Jan 26, 2024
GOLIM41Jan 26, 2024
GORAB3Jan 26, 2024
GORAB-AS11Jan 26, 2024
GOSR211Jan 26, 2024
GOT21Jan 26, 2024
GP1BA3Jan 26, 2024
GP1BB2Jan 26, 2024
GP61Jan 26, 2024
GP92Jan 26, 2024
GPAA15Jan 26, 2024
GPC34Jan 26, 2024
GPC42Jan 26, 2024
GPD1L1Jan 26, 2024
GPHN6Jan 26, 2024
GPI29Jan 26, 2024
GPLD11Jan 26, 2024
GPNMB2Jan 26, 2024
GPR1432Jan 26, 2024
GPR1793Jan 26, 2024
GPSM23Jan 26, 2024
GPT21Jan 26, 2024
GPX118Jan 26, 2024
GREB1L7Jan 26, 2024
GRHL11Jan 26, 2024
GRHL22Jan 26, 2024
GRHL31Jan 26, 2024
GRHPR8Jan 26, 2024
GRIA14Jan 26, 2024
GRIA22Jan 26, 2024
GRIA33Jan 26, 2024
GRIA45Jan 26, 2024
GRID11Jan 26, 2024
GRID1-AS11Jan 26, 2024
GRIK24Jan 26, 2024
GRIN18Jan 26, 2024
GRIN2A26Jan 26, 2024
GRIN2B32Jan 26, 2024
GRIN2D10Jan 26, 2024
GRIN3A1Jan 26, 2024
GRIN3B1Jan 26, 2024
GRIP13Jan 26, 2024
GRM15Jan 26, 2024
GRM64Jan 26, 2024
GRM71Jan 26, 2024
GRN6Jan 26, 2024
GSDME4Jan 26, 2024
GSN1Jan 26, 2024
GSR24Jan 26, 2024
GSS28Jan 26, 2024
GTF3C2-AS22Jan 26, 2024
GTPBP24Jan 26, 2024
GTPBP32Jan 26, 2024
GUCY1A11Jan 26, 2024
GUCY2C3Jan 26, 2024
GUCY2C-AS13Jan 26, 2024
GUCY2D8Jan 26, 2024
GUF12Jan 26, 2024
GUSB25Jan 26, 2024
GYG13Jan 26, 2024
GYPC12Jan 26, 2024
GYS14Jan 26, 2024
GYS28Jan 26, 2024
GZF11Jan 26, 2024
H1-41Jan 26, 2024
H4C31Jan 26, 2024
H6PD2Jan 26, 2024
HACE14Jan 26, 2024
HADH2Jan 26, 2024
HADHA8Jan 26, 2024
HADHB5Jan 26, 2024
HAL1Jan 26, 2024
HAMP1Jan 26, 2024
HAND11Jan 26, 2024
HARS15Jan 26, 2024
HARS21Jan 26, 2024
HAUS31Jan 26, 2024
HAVCR22Jan 26, 2024
HAX15Jan 26, 2024
HBA-LCR8Jan 26, 2024
HBA11Jan 26, 2024
HBA22Jan 26, 2024
HBB38Jan 26, 2024
HBD2Jan 26, 2024
HCCS1Jan 26, 2024
HCFC122Jan 26, 2024
HCN112Jan 26, 2024
HCN25Jan 26, 2024
HCN48Jan 26, 2024
HDAC45Jan 26, 2024
HDAC82Jan 26, 2024
HDLBP2Jan 26, 2024
HECW216Jan 26, 2024
HEPACAM6Jan 26, 2024
HERC19Jan 26, 2024
HERC236Jan 26, 2024
HESX14Jan 26, 2024
HEXA18Jan 26, 2024
HEXB10Jan 26, 2024
HEY21Jan 26, 2024
HFE3Jan 26, 2024
HFE-AS11Jan 26, 2024
HFM11Jan 26, 2024
HGD4Jan 26, 2024
HGSNAT5Jan 26, 2024
HIBCH5Jan 26, 2024
HINT11Jan 26, 2024
HIVEP233Jan 26, 2024
HJV2Jan 26, 2024
HK131Jan 26, 2024
HLCS11Jan 26, 2024
HMBS5Jan 26, 2024
HMGCL6Jan 26, 2024
HMGCS22Jan 26, 2024
HMOX11Jan 26, 2024
HMX11Jan 26, 2024
HNF1A5Jan 26, 2024
HNF1B4Jan 26, 2024
HNF4A4Jan 26, 2024
HNMT2Jan 26, 2024
HNRNPA117Jan 26, 2024
HNRNPA2B13Jan 26, 2024
HNRNPDL26Jan 26, 2024
HNRNPH11Jan 26, 2024
HNRNPH24Jan 26, 2024
HNRNPK1Jan 26, 2024
HNRNPK-AS11Jan 26, 2024
HNRNPR1Jan 26, 2024
HNRNPU8Jan 26, 2024
HNRNPUL2-BSCL26Jan 26, 2024
HOGA113Jan 26, 2024
HOXA132Jan 26, 2024
HOXB132Jan 26, 2024
HOXC132Jan 26, 2024
HOXC13-AS1Jan 26, 2024
HOXD103Jan 26, 2024
HOXD132Jan 26, 2024
HPD4Jan 26, 2024
HPDL2Jan 26, 2024
HPGD4Jan 26, 2024
HPS110Jan 26, 2024
HPS312Jan 26, 2024
HPS42Jan 26, 2024
HPS53Jan 26, 2024
HPS65Jan 26, 2024
HPSE22Jan 26, 2024
HRAS8Jan 26, 2024
HS6ST11Jan 26, 2024
HS6ST21Jan 26, 2024
HSALR182Jan 26, 2024
HSD11B23Jan 26, 2024
HSD17B102Jan 26, 2024
HSD17B37Jan 26, 2024
HSD17B3-AS13Jan 26, 2024
HSD17B412Jan 26, 2024
HSD3B23Jan 26, 2024
HSD3B73Jan 26, 2024
HSPA92Jan 26, 2024
HSPB17Jan 26, 2024
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PLEKHG55Jan 26, 2024
PLG4Jan 26, 2024
PLIN11Jan 26, 2024
PLN1Jan 26, 2024
PLOD16Jan 26, 2024
PLOD24Jan 26, 2024
PLOD33Jan 26, 2024
PLP11Jan 26, 2024
PLPBP4Jan 26, 2024
PLS11Jan 26, 2024
PLS31Jan 26, 2024
PLXNA13Jan 26, 2024
PLXNB32Jan 26, 2024
PLXND11Jan 26, 2024
PMFBP12Jan 26, 2024
PML2Jan 26, 2024
PMM212Jan 26, 2024
PMP225Jan 26, 2024
PMPCA2Jan 26, 2024
PMPCB2Jan 26, 2024
PMS12Jan 26, 2024
PMS244Jan 26, 2024
PMVK1Jan 26, 2024
PNKD5Jan 26, 2024
PNKP26Jan 26, 2024
PNLIP1Jan 26, 2024
PNP2Jan 26, 2024
PNPLA262Jan 26, 2024
PNPLA66Jan 26, 2024
PNPO4Jan 26, 2024
PNPT15Jan 26, 2024
POC1A1Jan 26, 2024
POC1B1Jan 26, 2024
PODXL1Jan 26, 2024
POF1B1Jan 26, 2024
POGLUT119Jan 26, 2024
POGZ23Jan 26, 2024
POLA14Jan 26, 2024
POLD16Jan 26, 2024
POLE20Jan 26, 2024
POLG57Jan 26, 2024
POLG24Jan 26, 2024
POLGARF57Jan 26, 2024
POLH3Jan 26, 2024
POLK2Jan 26, 2024
POLN1Jan 26, 2024
POLR1A3Jan 26, 2024
POLR1C20Jan 26, 2024
POLR2A5Jan 26, 2024
POLR2F4Jan 26, 2024
POLR3A15Jan 26, 2024
POLR3B7Jan 26, 2024
POLR3K2Jan 26, 2024
POLRMT4Jan 26, 2024
POMGNT169Jan 26, 2024
POMGNT210Jan 26, 2024
POMK23Jan 26, 2024
POMP1Jan 26, 2024
POMT187Jan 26, 2024
POMT2102Jan 26, 2024
POP11Jan 26, 2024
POPDC129Jan 26, 2024
POR8Jan 26, 2024
PORCN2Jan 26, 2024
POT14Jan 26, 2024
POU1F11Jan 26, 2024
POU3F35Jan 26, 2024
PPA22Jan 26, 2024
PPM1D5Jan 26, 2024
PPOX4Jan 26, 2024
PPP1R15B2Jan 26, 2024
PPP2CA1Jan 26, 2024
PPP2R1A4Jan 26, 2024
PPP2R5D4Jan 26, 2024
PPP3CA7Jan 26, 2024
PPRC11Jan 26, 2024
PPT18Jan 26, 2024
PQBP13Jan 26, 2024
PRDM121Jan 26, 2024
PRDM166Jan 26, 2024
PRDM54Jan 26, 2024
PRDM61Jan 26, 2024
PRDM6-AS11Jan 26, 2024
PRDX31Jan 26, 2024
PREPL10Jan 26, 2024
PRF116Jan 26, 2024
PRG44Jan 26, 2024
PRICKLE15Jan 26, 2024
PRICKLE23Jan 26, 2024
PRICKLE2-AS11Jan 26, 2024
PRKACA1Jan 26, 2024
PRKAG25Jan 26, 2024
PRKAR1A1Jan 26, 2024
PRKCD2Jan 26, 2024
PRKCSH1Jan 26, 2024
PRKD14Jan 26, 2024
PRKDC5Jan 26, 2024
PRKG12Jan 26, 2024
PRKN6Jan 26, 2024
PRKRA2Jan 26, 2024
PRLR1Jan 26, 2024
PRMT74Jan 26, 2024
PRMT91Jan 26, 2024
PRNP2Jan 26, 2024
PROC5Jan 26, 2024
PRODH9Jan 26, 2024
PROKR25Jan 26, 2024
PROM17Jan 26, 2024
PROP14Jan 26, 2024
PROS14Jan 26, 2024
PRPF82Jan 26, 2024
PRPH1Jan 26, 2024
PRPH21Jan 26, 2024
PRPS12Jan 26, 2024
PRR123Jan 26, 2024
PRRT29Jan 26, 2024
PRRX11Jan 26, 2024
PRSS11Jan 26, 2024
PRSS124Jan 26, 2024
PRSS233Jan 26, 2024
PRX13Jan 26, 2024
PSAP3Jan 26, 2024
PSAT11Jan 26, 2024
PSEN13Jan 26, 2024
PSEN21Jan 26, 2024
PSMB102Jan 26, 2024
PSMB41Jan 26, 2024
PSMB83Jan 26, 2024
PSMB8-AS11Jan 26, 2024
PSMD123Jan 26, 2024
PSMG21Jan 26, 2024
PSTPIP12Jan 26, 2024
PTCH111Jan 26, 2024
PTCH22Jan 26, 2024
PTCHD14Jan 26, 2024
PTCHD1-AS2Jan 26, 2024
PTDSS11Jan 26, 2024
PTEN11Jan 26, 2024
PTGIS1Jan 26, 2024
PTH1Jan 26, 2024
PTH1R1Jan 26, 2024
PTPN1120Jan 26, 2024
PTPN144Jan 26, 2024
PTPN221Jan 26, 2024
PTPN2314Jan 26, 2024
PTPN41Jan 26, 2024
PTPRC2Jan 26, 2024
PTPRO2Jan 26, 2024
PTPRQ2Jan 26, 2024
PTRH21Jan 26, 2024
PTS7Jan 26, 2024
PUF609Jan 26, 2024
PUM11Jan 26, 2024
PURA4Jan 26, 2024
PUS11Jan 26, 2024
PUS101Jan 26, 2024
PUS33Jan 26, 2024
PXDN2Jan 26, 2024
PYCR14Jan 26, 2024
PYCR25Jan 26, 2024
PYGL6Jan 26, 2024
PYGM146Jan 26, 2024
QARS111Jan 26, 2024
QDPR4Jan 26, 2024
QRICH14Jan 26, 2024
RAB11B1Jan 26, 2024
RAB182Jan 26, 2024
RAB232Jan 26, 2024
RAB27A4Jan 26, 2024
RAB33A4Jan 26, 2024
RAB33B2Jan 26, 2024
RAB3GAP14Jan 26, 2024
RAB3GAP27Jan 26, 2024
RAB9A1Jan 26, 2024
RAB9B1Jan 26, 2024
RAC13Jan 26, 2024
RAC31Jan 26, 2024
RAD212Jan 26, 2024
RAD21L11Jan 26, 2024
RAD5034Jan 26, 2024
RAD51C7Jan 26, 2024
RAD51D9Jan 26, 2024
RAD51L3-RFFL9Jan 26, 2024
RAD54L1Jan 26, 2024
RAF17Jan 26, 2024
RAG111Jan 26, 2024
RAG22Jan 26, 2024
RAI19Jan 26, 2024
RALGAPB1Jan 26, 2024
RANBP27Jan 26, 2024
RANGRF1Jan 26, 2024
RAPSN61Jan 26, 2024
RARB1Jan 26, 2024
RARS15Jan 26, 2024
RARS215Jan 26, 2024
RASA18Jan 26, 2024
RASGRP11Jan 26, 2024
RAX1Jan 26, 2024
RAX22Jan 26, 2024
RB13Jan 26, 2024
RBBP87Jan 26, 2024
RBCK13Jan 26, 2024
RBFOX13Jan 26, 2024
RBM103Jan 26, 2024
RBM207Jan 26, 2024
RBM281Jan 26, 2024
RBMX1Jan 26, 2024
RBMY1A11Jan 26, 2024
RBP34Jan 26, 2024
RBPJ1Jan 26, 2024
RDH124Jan 26, 2024
RDH54Jan 26, 2024
RDX1Jan 26, 2024
RECQL3Jan 26, 2024
RECQL431Jan 26, 2024
REEP11Jan 26, 2024
RELN23Jan 26, 2024
REN2Jan 26, 2024
RERE28Jan 26, 2024
RET13Jan 26, 2024
RETREG11Jan 26, 2024
REV3L1Jan 26, 2024
RFT14Jan 26, 2024
RFX51Jan 26, 2024
RFX71Jan 26, 2024
RFXANK2Jan 26, 2024
RHAG24Jan 26, 2024
RHO1Jan 26, 2024
RHOBTB24Jan 26, 2024
RIC11Jan 26, 2024
RIF1189Jan 26, 2024
RIGI1Jan 26, 2024
RIMS14Jan 26, 2024
RIN24Jan 26, 2024
RIPK11Jan 26, 2024
RIPK41Jan 26, 2024
RIPPLY21Jan 26, 2024
RIPPLY2-CYB5R41Jan 26, 2024
RIT18Jan 26, 2024
RLBP11Jan 26, 2024
RLIG14Jan 26, 2024
RLIM3Jan 26, 2024
RMND14Jan 26, 2024
RMRP1Jan 26, 2024
RNASE41Jan 26, 2024
RNASEH2A1Jan 26, 2024
RNASEH2B2Jan 26, 2024
RNASEH2C4Jan 26, 2024
RNASEL2Jan 26, 2024
RNASET25Jan 26, 2024
RNF1251Jan 26, 2024
RNF146Jan 26, 2024
RNF1681Jan 26, 2024
RNF171Jan 26, 2024
RNF1701Jan 26, 2024
RNF2138Jan 26, 2024
RNF213-AS13Jan 26, 2024
RNF2164Jan 26, 2024
RNF311Jan 26, 2024
RNF431Jan 26, 2024
RNU4ATAC1Jan 26, 2024
ROBO13Jan 26, 2024
ROBO21Jan 26, 2024
ROBO31Jan 26, 2024
ROBO42Jan 26, 2024
ROGDI4Jan 26, 2024
ROM11Jan 26, 2024
ROR22Jan 26, 2024
RORA7Jan 26, 2024
RORA-AS15Jan 26, 2024
RORB1Jan 26, 2024
RP111Jan 26, 2024
RP1L110Jan 26, 2024
RP21Jan 26, 2024
RPE658Jan 26, 2024
RPGR2Jan 26, 2024
RPGRIP18Jan 26, 2024
RPGRIP1L24Jan 26, 2024
RPL117Jan 26, 2024
RPL35A6Jan 26, 2024
RPL36A-HNRNPH2150Jan 26, 2024
RPL511Jan 26, 2024
RPS196Jan 26, 2024
RPS242Jan 26, 2024
RPS268Jan 26, 2024
RPS6KA37Jan 26, 2024
RPS75Jan 26, 2024
RRAS1Jan 26, 2024
RRAS21Jan 26, 2024
RRM2B4Jan 26, 2024
RS11Jan 26, 2024
RSPH13Jan 26, 2024
RSPH4A5Jan 26, 2024
RSPH92Jan 26, 2024
RSPRY11Jan 26, 2024
RTEL120Jan 26, 2024
RTEL1-TNFRSF6B22Jan 26, 2024
RTN26Jan 26, 2024
RTTN12Jan 26, 2024
RUBCN2Jan 26, 2024
RUNX16Jan 26, 2024
RUNX25Jan 26, 2024
RUSC22Jan 26, 2024
RXYLT14Jan 26, 2024
RXYLT1-AS11Jan 26, 2024
RYR1748Jan 26, 2024
RYR230Jan 26, 2024
RYR35Jan 26, 2024
SACS42Jan 26, 2024
SAG2Jan 26, 2024
SALL17Jan 26, 2024
SALL21Jan 26, 2024
SALL43Jan 26, 2024
SAMD92Jan 26, 2024
SAMD9L7Jan 26, 2024
SAMHD19Jan 26, 2024
SAR1B2Jan 26, 2024
SARDH1Jan 26, 2024
SARM11Jan 26, 2024
SARS24Jan 26, 2024
SASH12Jan 26, 2024
SATB13Jan 26, 2024
SATB210Jan 26, 2024
SBDS4Jan 26, 2024
SBF14Jan 26, 2024
SBF24Jan 26, 2024
SBF2-AS11Jan 26, 2024
SCAMP44Jan 26, 2024
SCAP1Jan 26, 2024
SCAPER5Jan 26, 2024
SCARB11Jan 26, 2024
SCARB29Jan 26, 2024
SCARF21Jan 26, 2024
SCLT11Jan 26, 2024
SCN10A9Jan 26, 2024
SCN11A10Jan 26, 2024
SCN1A73Jan 26, 2024
SCN1A-AS127Jan 26, 2024
SCN1B5Jan 26, 2024
SCN2A31Jan 26, 2024
SCN2B3Jan 26, 2024
SCN3A31Jan 26, 2024
SCN4A235Jan 26, 2024
SCN5A33Jan 26, 2024
SCN7A4Jan 26, 2024
SCN8A26Jan 26, 2024
SCN9A30Jan 26, 2024
SCNN1A2Jan 26, 2024
SCNN1B3Jan 26, 2024
SCNN1G3Jan 26, 2024
SCO12Jan 26, 2024
SCO28Jan 26, 2024
SCRIB2Jan 26, 2024
SCYL11Jan 26, 2024
SDCCAG82Jan 26, 2024
SDHA17Jan 26, 2024
SDHAF21Jan 26, 2024
SDHB4Jan 26, 2024
SDHC3Jan 26, 2024
SDHD5Jan 26, 2024
SEC23A1Jan 26, 2024
SEC23B42Jan 26, 2024
SEC24D4Jan 26, 2024
SEC61A11Jan 26, 2024
SEC631Jan 26, 2024
SECISBP22Jan 26, 2024
SELENON54Jan 26, 2024
SEMA3A1Jan 26, 2024
SEMA3C2Jan 26, 2024
SEMA3E2Jan 26, 2024
SEMA6B3Jan 26, 2024
SEPSECS5Jan 26, 2024
SEPT5-GP1BB2Jan 26, 2024
SEPTIN93Jan 26, 2024
SERAC16Jan 26, 2024
SERPINA15Jan 26, 2024
SERPINA31Jan 26, 2024
SERPINA61Jan 26, 2024
SERPINA71Jan 26, 2024
SERPINB61Jan 26, 2024
SERPINB73Jan 26, 2024
SERPINB81Jan 26, 2024
SERPINC13Jan 26, 2024
SERPINF12Jan 26, 2024
SERPING13Jan 26, 2024
SERPINH12Jan 26, 2024
SERPINI12Jan 26, 2024
SET2Jan 26, 2024
SETBP134Jan 26, 2024
SETD1A18Jan 26, 2024
SETD1B17Jan 26, 2024
SETD226Jan 26, 2024
SETD519Jan 26, 2024
SETX36Jan 26, 2024
SF3B42Jan 26, 2024
SFTA31Jan 26, 2024
SFTPB3Jan 26, 2024
SFTPC4Jan 26, 2024
SFXN42Jan 26, 2024
SGCA85Jan 26, 2024
SGCB67Jan 26, 2024
SGCD29Jan 26, 2024
SGCE37Jan 26, 2024
SGCG59Jan 26, 2024
SGO11Jan 26, 2024
SGO1-AS11Jan 26, 2024
SGPL12Jan 26, 2024
SGSH10Jan 26, 2024
SH2B11Jan 26, 2024
SH2B33Jan 26, 2024
SH3PXD2B2Jan 26, 2024
SH3TC219Jan 26, 2024
SHANK15Jan 26, 2024
SHANK24Jan 26, 2024
SHANK311Jan 26, 2024
SHH3Jan 26, 2024
SHLD21Jan 26, 2024
SHMT11Jan 26, 2024
SHOC22Jan 26, 2024
SHROOM21Jan 26, 2024
SHROOM49Jan 26, 2024
SI9Jan 26, 2024
SIAH11Jan 26, 2024
SIGLEC11Jan 26, 2024
SIK19Jan 26, 2024
SIL156Jan 26, 2024
SIN3A11Jan 26, 2024
SIPA1L31Jan 26, 2024
SIX11Jan 26, 2024
SIX21Jan 26, 2024
SIX32Jan 26, 2024
SIX54Jan 26, 2024
SKI9Jan 26, 2024
SKIC22Jan 26, 2024
SKIC39Jan 26, 2024
SLA2Jan 26, 2024
SLC10A11Jan 26, 2024
SLC10A71Jan 26, 2024
SLC12A13Jan 26, 2024
SLC12A24Jan 26, 2024
SLC12A332Jan 26, 2024
SLC12A57Jan 26, 2024
SLC12A610Jan 26, 2024
SLC13A31Jan 26, 2024
SLC13A55Jan 26, 2024
SLC16A11Jan 26, 2024
SLC16A22Jan 26, 2024
SLC17A59Jan 26, 2024
SLC17A82Jan 26, 2024
SLC18A22Jan 26, 2024
SLC18A31Jan 26, 2024
SLC19A15Jan 26, 2024
SLC19A22Jan 26, 2024
SLC19A35Jan 26, 2024
SLC1A212Jan 26, 2024
SLC1A35Jan 26, 2024
SLC1A45Jan 26, 2024
SLC20A23Jan 26, 2024
SLC22A124Jan 26, 2024
SLC22A531Jan 26, 2024
SLC22A91Jan 26, 2024
SLC25A14Jan 26, 2024
SLC25A121Jan 26, 2024
SLC25A1312Jan 26, 2024
SLC25A154Jan 26, 2024
SLC25A192Jan 26, 2024
SLC25A202Jan 26, 2024
SLC25A226Jan 26, 2024
SLC25A241Jan 26, 2024
SLC25A31Jan 26, 2024
SLC25A351Jan 26, 2024
SLC25A41Jan 26, 2024
SLC25A421Jan 26, 2024
SLC25A461Jan 26, 2024
SLC26A146Jan 26, 2024
SLC26A112Jan 26, 2024
SLC26A212Jan 26, 2024
SLC26A32Jan 26, 2024
SLC26A440Jan 26, 2024
SLC26A4-AS14Jan 26, 2024
SLC26A51Jan 26, 2024
SLC26A5-AS13Jan 26, 2024
SLC27A43Jan 26, 2024
SLC29A31Jan 26, 2024
SLC2A128Jan 26, 2024
SLC2A108Jan 26, 2024
SLC2A24Jan 26, 2024
SLC2A51Jan 26, 2024
SLC2A96Jan 26, 2024
SLC30A101Jan 26, 2024
SLC30A51Jan 26, 2024
SLC30A71Jan 26, 2024
SLC33A11Jan 26, 2024
SLC34A110Jan 26, 2024
SLC34A311Jan 26, 2024
SLC35A22Jan 26, 2024
SLC35A33Jan 26, 2024
SLC35C11Jan 26, 2024
SLC35D11Jan 26, 2024
SLC35D2-HSD17B37Jan 26, 2024
SLC36A15Jan 26, 2024
SLC36A21Jan 26, 2024
SLC37A49Jan 26, 2024
SLC38A84Jan 26, 2024
SLC39A133Jan 26, 2024
SLC39A13-AS11Jan 26, 2024
SLC39A43Jan 26, 2024
SLC39A51Jan 26, 2024
SLC39A84Jan 26, 2024
SLC3A113Jan 26, 2024
SLC40A11Jan 26, 2024
SLC45A11Jan 26, 2024
SLC45A22Jan 26, 2024
SLC46A11Jan 26, 2024
SLC4A1131Jan 26, 2024
SLC4A113Jan 26, 2024
SLC52A11Jan 26, 2024
SLC52A24Jan 26, 2024
SLC52A35Jan 26, 2024
SLC5A12Jan 26, 2024
SLC5A25Jan 26, 2024
SLC5A51Jan 26, 2024
SLC5A61Jan 26, 2024
SLC5A76Jan 26, 2024
SLC5A91Jan 26, 2024
SLC6A112Jan 26, 2024
SLC6A1-AS14Jan 26, 2024
SLC6A131Jan 26, 2024
SLC6A193Jan 26, 2024
SLC6A33Jan 26, 2024
SLC6A53Jan 26, 2024
SLC6A84Jan 26, 2024
SLC6A91Jan 26, 2024
SLC7A73Jan 26, 2024
SLC7A915Jan 26, 2024
SLC9A12Jan 26, 2024
SLC9A33Jan 26, 2024
SLC9A66Jan 26, 2024
SLC9A75Jan 26, 2024
SLC9A92Jan 26, 2024
SLCO1B117Jan 26, 2024
SLCO1B315Jan 26, 2024
SLCO1B3-SLCO1B715Jan 26, 2024
SLCO2A12Jan 26, 2024
SLFN141Jan 26, 2024
SLITRK12Jan 26, 2024
SLITRK51Jan 26, 2024
SLITRK61Jan 26, 2024
SLMAP1Jan 26, 2024
SLX417Jan 26, 2024
SMAD22Jan 26, 2024
SMAD31Jan 26, 2024
SMAD45Jan 26, 2024
SMAD66Jan 26, 2024
SMAD92Jan 26, 2024
SMARCA11Jan 26, 2024
SMARCA222Jan 26, 2024
SMARCA415Jan 26, 2024
SMARCAL15Jan 26, 2024
SMARCB15Jan 26, 2024
SMARCC14Jan 26, 2024
SMARCC28Jan 26, 2024
SMARCD12Jan 26, 2024
SMARCD21Jan 26, 2024
SMARCE13Jan 26, 2024
SMC1A4Jan 26, 2024
SMC33Jan 26, 2024
SMCHD1123Jan 26, 2024
SMG94Jan 26, 2024
SMN16Jan 26, 2024
SMO1Jan 26, 2024
SMOC12Jan 26, 2024
SMPD132Jan 26, 2024
SMPD44Jan 26, 2024
SMS4Jan 26, 2024
SNCB1Jan 26, 2024
SNHG1411Jan 26, 2024
SNHG313Jan 26, 2024
SNIP11Jan 26, 2024
SNORD1181Jan 26, 2024
SNRNP2002Jan 26, 2024
SNRPB1Jan 26, 2024
SNRPN1Jan 26, 2024
SNTA12Jan 26, 2024
SNTG11Jan 26, 2024
SNTG21Jan 26, 2024
SNURF1Jan 26, 2024
SNX101Jan 26, 2024
SNX142Jan 26, 2024
SOD13Jan 26, 2024
SON38Jan 26, 2024
SORD3Jan 26, 2024
SOS122Jan 26, 2024
SOS213Jan 26, 2024
SOST1Jan 26, 2024
SOX104Jan 26, 2024
SOX113Jan 26, 2024
SOX23Jan 26, 2024
SOX2-OT3Jan 26, 2024
SOX34Jan 26, 2024
SOX41Jan 26, 2024
SOX59Jan 26, 2024
SOX63Jan 26, 2024
SOX98Jan 26, 2024
SP1104Jan 26, 2024
SP1402Jan 26, 2024
SP72Jan 26, 2024
SPAG17Jan 26, 2024
SPAG81Jan 26, 2024
SPART4Jan 26, 2024
SPAST11Jan 26, 2024
SPATA227Jan 26, 2024
SPATA73Jan 26, 2024
SPECC1L7Jan 26, 2024
SPECC1L-ADORA2A7Jan 26, 2024
SPEG40Jan 26, 2024
SPEN14Jan 26, 2024
SPEN-AS11Jan 26, 2024
SPG1128Jan 26, 2024
SPG212Jan 26, 2024
SPG718Jan 26, 2024
SPINK12Jan 26, 2024
SPINK53Jan 26, 2024
SPINT21Jan 26, 2024
SPOP2Jan 26, 2024
SPR5Jan 26, 2024
SPRED13Jan 26, 2024
SPTA1230Jan 26, 2024
SPTAN132Jan 26, 2024
SPTB250Jan 26, 2024
SPTBN19Jan 26, 2024
SPTBN1-AS21Jan 26, 2024
SPTBN218Jan 26, 2024
SPTBN48Jan 26, 2024
SPTBN53Jan 26, 2024
SPTLC13Jan 26, 2024
SPTLC22Jan 26, 2024
SQSTM110Jan 26, 2024
SRCAP28Jan 26, 2024
SRD5A21Jan 26, 2024
SRD5A32Jan 26, 2024
SRFBP14Jan 26, 2024
SRPRA1Jan 26, 2024
SRPX1Jan 26, 2024
SRPX21Jan 26, 2024
SSR41Jan 26, 2024
SSUH23Jan 26, 2024
ST141Jan 26, 2024
ST3GAL37Jan 26, 2024
ST3GAL3-AS12Jan 26, 2024
ST3GAL56Jan 26, 2024
ST6GALNAC4-ST6GALNAC6-AK111Jan 26, 2024
STAC35Jan 26, 2024
STAG19Jan 26, 2024
STAG25Jan 26, 2024
STAG32Jan 26, 2024
STAMBP3Jan 26, 2024
STAR6Jan 26, 2024
STARD71Jan 26, 2024
STAT13Jan 26, 2024
STAT23Jan 26, 2024
STAT33Jan 26, 2024
STAT5B1Jan 26, 2024
STIL5Jan 26, 2024
STIM17Jan 26, 2024
STING12Jan 26, 2024
STK114Jan 26, 2024
STK361Jan 26, 2024
STN11Jan 26, 2024
STON1-GTF2A1L2Jan 26, 2024
STRA61Jan 26, 2024
STRC4Jan 26, 2024
STS1Jan 26, 2024
STUB11Jan 26, 2024
STX111Jan 26, 2024
STX1B2Jan 26, 2024
STXBP117Jan 26, 2024
STXBP27Jan 26, 2024
SUCLA27Jan 26, 2024
SUCLG15Jan 26, 2024
SUFU5Jan 26, 2024
SUMF16Jan 26, 2024
SUN13Jan 26, 2024
SUN21Jan 26, 2024
SUN51Jan 26, 2024
SUOX3Jan 26, 2024
SUPT16H2Jan 26, 2024
SURF112Jan 26, 2024
SYCE22Jan 26, 2024
SYCP31Jan 26, 2024
SYN19Jan 26, 2024
SYNE1833Jan 26, 2024
SYNE1-AS111Jan 26, 2024
SYNE2339Jan 26, 2024
SYNE41Jan 26, 2024
SYNGAP124Jan 26, 2024
SYNGAP1-AS116Jan 26, 2024
SYNJ18Jan 26, 2024
SYNPO1Jan 26, 2024
SYP1Jan 26, 2024
SYT11Jan 26, 2024
SYT25Jan 26, 2024
SZT231Jan 26, 2024
SZT2-AS14Jan 26, 2024
TAB24Jan 26, 2024
TACO12Jan 26, 2024
TACR31Jan 26, 2024
TAF114Jan 26, 2024
TAF101Jan 26, 2024
TAF1A2Jan 26, 2024
TAF21Jan 26, 2024
TAF62Jan 26, 2024
TAFAZZIN5Jan 26, 2024
TALDO13Jan 26, 2024
TANC217Jan 26, 2024
TANGO22Jan 26, 2024
TAOK11Jan 26, 2024
TAP13Jan 26, 2024
TAP21Jan 26, 2024
TAPBP2Jan 26, 2024
TAPBPL1Jan 26, 2024
TARDBP4Jan 26, 2024
TARID1Jan 26, 2024
TARS23Jan 26, 2024
TASP11Jan 26, 2024
TAT2Jan 26, 2024
TAT-AS12Jan 26, 2024
TBC1D201Jan 26, 2024
TBC1D235Jan 26, 2024
TBC1D2413Jan 26, 2024
TBC1D2B1Jan 26, 2024
TBC1D311Jan 26, 2024
TBC1D8B3Jan 26, 2024
TBCD22Jan 26, 2024
TBCE11Jan 26, 2024
TBCEL-TECTA11Jan 26, 2024
TBCK10Jan 26, 2024
TBK12Jan 26, 2024
TBL1XR12Jan 26, 2024
TBL1XR1-AS11Jan 26, 2024
TBR19Jan 26, 2024
TBX15Jan 26, 2024
TBX151Jan 26, 2024
TBX181Jan 26, 2024
TBX21Jan 26, 2024
TBX201Jan 26, 2024
TBX221Jan 26, 2024
TBX33Jan 26, 2024
TBX41Jan 26, 2024
TBX54Jan 26, 2024
TBX63Jan 26, 2024
TBXAS11Jan 26, 2024
TBXT1Jan 26, 2024
TCAP22Jan 26, 2024
TCF125Jan 26, 2024
TCF2033Jan 26, 2024
TCF33Jan 26, 2024
TCF410Jan 26, 2024
TCIRG111Jan 26, 2024
TCN11Jan 26, 2024
TCN23Jan 26, 2024
TCOF16Jan 26, 2024
TCTN12Jan 26, 2024
TCTN23Jan 26, 2024
TCTN33Jan 26, 2024
TDP22Jan 26, 2024
TECPR26Jan 26, 2024
TECTA11Jan 26, 2024
TEK2Jan 26, 2024
TELO23Jan 26, 2024
TENM32Jan 26, 2024
TENM48Jan 26, 2024
TERT9Jan 26, 2024
TET11Jan 26, 2024
TET22Jan 26, 2024
TET2-AS12Jan 26, 2024
TET32Jan 26, 2024
TEX151Jan 26, 2024
TFAM1Jan 26, 2024
TFAP2A4Jan 26, 2024
TFAP2A-AS22Jan 26, 2024
TFB2M1Jan 26, 2024
TFG5Jan 26, 2024
TFR27Jan 26, 2024
TG28Jan 26, 2024
TGDS3Jan 26, 2024
TGFB22Jan 26, 2024
TGFB31Jan 26, 2024
TGFBI1Jan 26, 2024
TGFBR14Jan 26, 2024
TGFBR29Jan 26, 2024
TGFBR31Jan 26, 2024
TGIF11Jan 26, 2024
TGM112Jan 26, 2024
TGM56Jan 26, 2024
TGM66Jan 26, 2024
TH18Jan 26, 2024
TH2-LCR4Jan 26, 2024
TH2LCRR5Jan 26, 2024
THBD2Jan 26, 2024
THG1L1Jan 26, 2024
THOC25Jan 26, 2024
THOC63Jan 26, 2024
THPO1Jan 26, 2024
THRA1Jan 26, 2024
THRB1Jan 26, 2024
THSD41Jan 26, 2024
THSD7A2Jan 26, 2024
THUMPD11Jan 26, 2024
TIA122Jan 26, 2024
TIGD13Jan 26, 2024
TIMMDC11Jan 26, 2024
TINAG1Jan 26, 2024
TINF25Jan 26, 2024
TJP28Jan 26, 2024
TK210Jan 26, 2024
TKT1Jan 26, 2024
TLE21Jan 26, 2024
TLE61Jan 26, 2024
TLK24Jan 26, 2024
TLL15Jan 26, 2024
TM4SF191Jan 26, 2024
TM4SF19-DYNLT2B2Jan 26, 2024
TMC15Jan 26, 2024
TMCO11Jan 26, 2024
TMCO61Jan 26, 2024
TMEM106B1Jan 26, 2024
TMEM1071Jan 26, 2024
TMEM126A1Jan 26, 2024
TMEM126B3Jan 26, 2024
TMEM1272Jan 26, 2024
TMEM132E1Jan 26, 2024
TMEM1381Jan 26, 2024
TMEM1651Jan 26, 2024
TMEM2163Jan 26, 2024
TMEM2316Jan 26, 2024
TMEM2375Jan 26, 2024
TMEM2403Jan 26, 2024
TMEM2604Jan 26, 2024
TMEM38B1Jan 26, 2024
TMEM4311Jan 26, 2024
TMEM6715Jan 26, 2024
TMEM703Jan 26, 2024
TMEM941Jan 26, 2024
TMIE1Jan 26, 2024
TMLHE3Jan 26, 2024
TMPO1Jan 26, 2024
TMPPE1Jan 26, 2024
TMPRSS154Jan 26, 2024
TMPRSS34Jan 26, 2024
TMPRSS63Jan 26, 2024
TMTC34Jan 26, 2024
TMX21Jan 26, 2024
TMX2-CTNND13Jan 26, 2024
TNC4Jan 26, 2024
TNFAIP34Jan 26, 2024
TNFRSF11A4Jan 26, 2024
TNFRSF11B1Jan 26, 2024
TNFRSF13B7Jan 26, 2024
TNFRSF13C1Jan 26, 2024
TNFRSF1A2Jan 26, 2024
TNFRSF6B2Jan 26, 2024
TNFSF111Jan 26, 2024
TNIK1Jan 26, 2024
TNKS1Jan 26, 2024
TNNC11Jan 26, 2024
TNNI22Jan 26, 2024
TNNI37Jan 26, 2024
TNNT117Jan 26, 2024
TNNT24Jan 26, 2024
TNPO346Jan 26, 2024
TNR2Jan 26, 2024
TNRC6B7Jan 26, 2024
TNS21Jan 26, 2024
TNXB39Jan 26, 2024
TOE13Jan 26, 2024
TOMT3Jan 26, 2024
TONSL3Jan 26, 2024
TONSL-AS11Jan 26, 2024
TOP2B1Jan 26, 2024
TOP3A2Jan 26, 2024
TOR1A2Jan 26, 2024
TOR1AIP122Jan 26, 2024
TP539Jan 26, 2024
TP635Jan 26, 2024
TP732Jan 26, 2024
TPH12Jan 26, 2024
TPI112Jan 26, 2024
TPK14Jan 26, 2024
TPM13Jan 26, 2024
TPM214Jan 26, 2024
TPM320Jan 26, 2024
TPO10Jan 26, 2024
TPP133Jan 26, 2024
TPP21Jan 26, 2024
TPR1Jan 26, 2024
TPRN1Jan 26, 2024
TRAF32Jan 26, 2024
TRAF3IP12Jan 26, 2024
TRAF74Jan 26, 2024
TRAIP2Jan 26, 2024
TRAK13Jan 26, 2024
TRAPPC1185Jan 26, 2024
TRAPPC123Jan 26, 2024
TRAPPC12-AS11Jan 26, 2024
TRAPPC21Jan 26, 2024
TRAPPC2L5Jan 26, 2024
TRAPPC43Jan 26, 2024
TRAPPC910Jan 26, 2024
TRB1Jan 26, 2024
TRDN9Jan 26, 2024
TREH1Jan 26, 2024
TREM22Jan 26, 2024
TREX116Jan 26, 2024
TRH1Jan 26, 2024
TRIM141Jan 26, 2024
TRIM21Jan 26, 2024
TRIM3276Jan 26, 2024
TRIM374Jan 26, 2024
TRIM59-IFT804Jan 26, 2024
TRIM81Jan 26, 2024
TRIO54Jan 26, 2024
TRIOBP9Jan 26, 2024
TRIP119Jan 26, 2024
TRIP1216Jan 26, 2024
TRIP48Jan 26, 2024
TRIT13Jan 26, 2024
TRMT12Jan 26, 2024
TRMU5Jan 26, 2024
TRNT13Jan 26, 2024
TROAP1Jan 26, 2024
TROAP-AS11Jan 26, 2024
TRPA12Jan 26, 2024
TRPC31Jan 26, 2024
TRPC61Jan 26, 2024
TRPM15Jan 26, 2024
TRPM43Jan 26, 2024
TRPM63Jan 26, 2024
TRPS13Jan 26, 2024
TRPV31Jan 26, 2024
TRPV416Jan 26, 2024
TRPV62Jan 26, 2024
TRRAP43Jan 26, 2024
TSBP1-AS11Jan 26, 2024
TSC112Jan 26, 2024
TSC252Jan 26, 2024
TSEN23Jan 26, 2024
TSEN5411Jan 26, 2024
TSFM5Jan 26, 2024
TSHB2Jan 26, 2024
TSHR9Jan 26, 2024
TSNAX-DISC12Jan 26, 2024
TSPAN149Jan 26, 2024
TSPEAR3Jan 26, 2024
TSR23Jan 26, 2024
TSTD31Jan 26, 2024
TTBK22Jan 26, 2024
TTC142Jan 26, 2024
TTC192Jan 26, 2024
TTC21B8Jan 26, 2024
TTC21B-AS11Jan 26, 2024
TTC7A4Jan 26, 2024
TTC83Jan 26, 2024
TTI21Jan 26, 2024
TTLL51Jan 26, 2024
TTN3346Jan 26, 2024
TTN-AS12071Jan 26, 2024
TTPA1Jan 26, 2024
TTR4Jan 26, 2024
TUBA1A2Jan 26, 2024
TUBA3E1Jan 26, 2024
TUBA4A2Jan 26, 2024
TUBB14Jan 26, 2024
TUBB2B2Jan 26, 2024
TUBB33Jan 26, 2024
TUBB4A6Jan 26, 2024
TUBB61Jan 26, 2024
TUBG14Jan 26, 2024
TUBGCP23Jan 26, 2024
TUBGCP41Jan 26, 2024
TUBGCP51Jan 26, 2024
TUBGCP610Jan 26, 2024
TULP13Jan 26, 2024
TUSC31Jan 26, 2024
TWIST12Jan 26, 2024
TWNK10Jan 26, 2024
TXNL4A1Jan 26, 2024
TYK29Jan 26, 2024
TYMP11Jan 26, 2024
TYR18Jan 26, 2024
TYRP13Jan 26, 2024
UBA15Jan 26, 2024
UBA54Jan 26, 2024
UBAP14Jan 26, 2024
UBAP2L1Jan 26, 2024
UBE2T1Jan 26, 2024
UBE3A10Jan 26, 2024
UBE3B3Jan 26, 2024
UBN21Jan 26, 2024
UBQLN21Jan 26, 2024
UBR12Jan 26, 2024
UBR32Jan 26, 2024
UBR43Jan 26, 2024
UBR71Jan 26, 2024
UBTF4Jan 26, 2024
UCHL11Jan 26, 2024
UCP11Jan 26, 2024
UCP21Jan 26, 2024
UGDH3Jan 26, 2024
UGT1A40Jan 26, 2024
UGT1A128Jan 26, 2024
UGT1A1040Jan 26, 2024
UGT1A328Jan 26, 2024
UGT1A428Jan 26, 2024
UGT1A528Jan 26, 2024
UGT1A634Jan 26, 2024
UGT1A740Jan 26, 2024
UGT1A840Jan 26, 2024
UGT1A940Jan 26, 2024
UMOD6Jan 26, 2024
UMPS1Jan 26, 2024
UNC13A1Jan 26, 2024
UNC13D17Jan 26, 2024
UNC45B2Jan 26, 2024
UNC5C2Jan 26, 2024
UNC8030Jan 26, 2024
UNG1Jan 26, 2024
UPB13Jan 26, 2024
UPF11Jan 26, 2024
UPF3B6Jan 26, 2024
UPK3A1Jan 26, 2024
UQCRC11Jan 26, 2024
UQCRC23Jan 26, 2024
UROD3Jan 26, 2024
UROS2Jan 26, 2024
USH1C3Jan 26, 2024
USH1G1Jan 26, 2024
USH2A59Jan 26, 2024
USH2A-AS15Jan 26, 2024
USH2A-AS25Jan 26, 2024
USP181Jan 26, 2024
USP301Jan 26, 2024
USP451Jan 26, 2024
USP531Jan 26, 2024
USP71Jan 26, 2024
USP9X14Jan 26, 2024
USP9Y2Jan 26, 2024
UTP231Jan 26, 2024
VAC142Jan 26, 2024
VAC14-AS11Jan 26, 2024
VAMP11Jan 26, 2024
VAMP21Jan 26, 2024
VANGL22Jan 26, 2024
VAPB2Jan 26, 2024
VARS12Jan 26, 2024
VARS23Jan 26, 2024
VAX11Jan 26, 2024
VCAN3Jan 26, 2024
VCAN-AS12Jan 26, 2024
VCL7Jan 26, 2024
VCP35Jan 26, 2024
VDR3Jan 26, 2024
VHL9Jan 26, 2024
VIPAS391Jan 26, 2024
VLDLR8Jan 26, 2024
VMA211Jan 26, 2024
VPS13A17Jan 26, 2024
VPS13A-AS11Jan 26, 2024
VPS13B45Jan 26, 2024
VPS13C11Jan 26, 2024
VPS13D4Jan 26, 2024
VPS161Jan 26, 2024
VPS33B5Jan 26, 2024
VPS452Jan 26, 2024
VPS4A1Jan 26, 2024
VPS541Jan 26, 2024
VRK16Jan 26, 2024
VRK22Jan 26, 2024
VSX11Jan 26, 2024
VSX22Jan 26, 2024
VWF18Jan 26, 2024
WAC12Jan 26, 2024
WARS11Jan 26, 2024
WARS21Jan 26, 2024
WAS1Jan 26, 2024
WASF11Jan 26, 2024
WASHC42Jan 26, 2024
WASHC55Jan 26, 2024
WDFY312Jan 26, 2024
WDFY3-AS12Jan 26, 2024
WDPCP5Jan 26, 2024
WDR111Jan 26, 2024
WDR193Jan 26, 2024
WDR262Jan 26, 2024
WDR359Jan 26, 2024
WDR361Jan 26, 2024
WDR43Jan 26, 2024
WDR456Jan 26, 2024
WDR45B1Jan 26, 2024
WDR6220Jan 26, 2024
WDR739Jan 26, 2024
WDR8121Jan 26, 2024
WFS119Jan 26, 2024
WHRN1Jan 26, 2024
WIPF11Jan 26, 2024
WNK16Jan 26, 2024
WNK43Jan 26, 2024
WNT12Jan 26, 2024
WNT10A9Jan 26, 2024
WNT41Jan 26, 2024
WNT5A2Jan 26, 2024
WNT7A1Jan 26, 2024
WRN18Jan 26, 2024
WT16Jan 26, 2024
WWOX18Jan 26, 2024
XDH6Jan 26, 2024
XIAP1Jan 26, 2024
XK7Jan 26, 2024
XPA5Jan 26, 2024
XPC6Jan 26, 2024
XPR11Jan 26, 2024
XRCC12Jan 26, 2024
XRCC23Jan 26, 2024
XYLT12Jan 26, 2024
YARS11Jan 26, 2024
YARS24Jan 26, 2024
YIPF51Jan 26, 2024
YWHAG1Jan 26, 2024
YY15Jan 26, 2024
ZAP704Jan 26, 2024
ZBTB111Jan 26, 2024
ZBTB182Jan 26, 2024
ZBTB202Jan 26, 2024
ZBTB242Jan 26, 2024
ZC4H24Jan 26, 2024
ZDHHC244Jan 26, 2024
ZDHHC93Jan 26, 2024
ZEB11Jan 26, 2024
ZEB211Jan 26, 2024
ZFHX41Jan 26, 2024
ZFP572Jan 26, 2024
ZFPM27Jan 26, 2024
ZFPM2-AS14Jan 26, 2024
ZFYVE2623Jan 26, 2024
ZFYVE272Jan 26, 2024
ZIC24Jan 26, 2024
ZIC41Jan 26, 2024
ZMIZ16Jan 26, 2024
ZMPSTE245Jan 26, 2024
ZMYM21Jan 26, 2024
ZMYND102Jan 26, 2024
ZMYND118Jan 26, 2024
ZMYND151Jan 26, 2024
ZNF1424Jan 26, 2024
ZNF1483Jan 26, 2024
ZNF27610Jan 26, 2024
ZNF29214Jan 26, 2024
ZNF3355Jan 26, 2024
ZNF4081Jan 26, 2024
ZNF413Jan 26, 2024
ZNF4239Jan 26, 2024
ZNF441Jan 26, 2024
ZNF4542Jan 26, 2024
ZNF4622Jan 26, 2024
ZNF46917Jan 26, 2024
ZNF518A1Jan 26, 2024
ZNF6272Jan 26, 2024
ZNF6441Jan 26, 2024
ZNF6742Jan 26, 2024
ZNF6871Jan 26, 2024
ZNF7115Jan 26, 2024
ZNF7501Jan 26, 2024
ZNF75D1Jan 26, 2024
ZNF804A1Jan 26, 2024
ZNF811Jan 26, 2024
ZP11Jan 26, 2024
ZRANB31Jan 26, 2024
ZSWIM614Jan 26, 2024

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency3Jan 26, 2024
3-Methylglutaconic aciduria type 25Jan 26, 2024
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jan 26, 2024
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Jan 26, 2024
3-methylcrotonyl-CoA carboxylase 1 deficiency29Jan 26, 2024
3-methylcrotonyl-CoA carboxylase 2 deficiency18Jan 26, 2024
3-methylglutaconic aciduria type 14Jan 26, 2024
3-methylglutaconic aciduria type 53Jan 26, 2024
3-methylglutaconic aciduria type 82Jan 26, 2024
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome6Jan 26, 2024
3M syndrome 15Jan 26, 2024
3M syndrome 25Jan 26, 2024
3M syndrome 31Jan 26, 2024
3MC syndrome 11Jan 26, 2024
3MC syndrome 21Jan 26, 2024
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1Jan 26, 2024
5-Oxoprolinase deficiency5Jan 26, 2024
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency7Jan 26, 2024
8q24.3 microdeletion syndrome9Jan 26, 2024
ACTH-independent macronodular adrenal hyperplasia 22Jan 26, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder18Jan 26, 2024
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome20Jan 26, 2024
AICA-ribosiduria1Jan 26, 2024
ALG1-congenital disorder of glycosylation7Jan 26, 2024
ALG11-congenital disorder of glycosylation2Jan 26, 2024
ALG12-congenital disorder of glycosylation5Jan 26, 2024
ALG6-congenital disorder of glycosylation 1C6Jan 26, 2024
ANE syndrome1Jan 26, 2024
Aarskog syndrome8Jan 26, 2024
Abdominal obesity-metabolic syndrome 33Jan 26, 2024
Abetalipoproteinaemia3Jan 26, 2024
Acatalasia1Jan 26, 2024
Achromatopsia 27Jan 26, 2024
Achromatopsia 36Jan 26, 2024
Acral peeling skin syndrome6Jan 26, 2024
Acrodermatitis continua suppurativa of Hallopeau1Jan 26, 2024
Acrodysostosis 2 with or without hormone resistance4Jan 26, 2024
Acrofacial dysostosis Cincinnati type3Jan 26, 2024
Action myoclonus-renal failure syndrome9Jan 26, 2024
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins5Jan 26, 2024
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Jan 26, 2024
Acute intermittent porphyria4Jan 26, 2024
Acute myeloid leukemia4Jan 26, 2024
Acyl-CoA dehydrogenase 9 deficiency17Jan 26, 2024
Adams-Oliver syndrome 112Jan 26, 2024
Adams-Oliver syndrome 214Jan 26, 2024
Adams-Oliver syndrome 31Jan 26, 2024
Adams-Oliver syndrome 41Jan 26, 2024
Adenine phosphoribosyltransferase deficiency4Jan 26, 2024
Adenylosuccinate lyase deficiency11Jan 26, 2024
Advanced sleep phase syndrome 15Jan 26, 2024
Agammaglobulinemia 2, autosomal recessive2Jan 26, 2024
Agammaglobulinemia 4, autosomal recessive1Jan 26, 2024
Agnathia-otocephaly complex1Jan 26, 2024
Aicardi-Goutieres syndrome 22Jan 26, 2024
Aicardi-Goutieres syndrome 34Jan 26, 2024
Aicardi-Goutieres syndrome 41Jan 26, 2024
Al Kaissi syndrome2Jan 26, 2024
Alacrima, achalasia, and intellectual disability syndrome3Jan 26, 2024
Alazami-Yuan syndrome2Jan 26, 2024
Alexander disease6Jan 26, 2024
Alkaptonuria4Jan 26, 2024
Alkuraya-Kucinskas syndrome18Jan 26, 2024
Allan-Herndon-Dudley syndrome2Jan 26, 2024
Alpha-1-antitrypsin deficiency5Jan 26, 2024
Alstrom syndrome12Jan 26, 2024
Alveolar capillary dysplasia with pulmonary venous misalignment5Jan 26, 2024
Amelocerebrohypohidrotic syndrome4Jan 26, 2024
Amelogenesis imperfecta type 1E1Jan 26, 2024
Amelogenesis imperfecta type 1G2Jan 26, 2024
Amyloidosis, primary localized cutaneous, 32Jan 26, 2024
Amyotrophic lateral sclerosis type 101Jan 26, 2024
Amyotrophic lateral sclerosis type 151Jan 26, 2024
Amyotrophic lateral sclerosis type 195Jan 26, 2024
Amyotrophic lateral sclerosis type 2115Jan 26, 2024
Amyotrophic lateral sclerosis type 222Jan 26, 2024
Amyotrophic lateral sclerosis type 91Jan 26, 2024
Amyotrophic neuralgia3Jan 26, 2024
Anauxetic dysplasia 21Jan 26, 2024
Anemia, congenital dyserythropoietic, type 1a81Jan 26, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency38Jan 26, 2024
Aneurysm-osteoarthritis syndrome1Jan 26, 2024
Angelman syndrome10Jan 26, 2024
Anophthalmia/microphthalmia-esophageal atresia syndrome3Jan 26, 2024
Anterior segment dysgenesis 72Jan 26, 2024
Anterior segment dysgenesis 81Jan 26, 2024
Aortic aneurysm, familial thoracic 104Jan 26, 2024
Aortic aneurysm, familial thoracic 121Jan 26, 2024
Aortic aneurysm, familial thoracic 82Jan 26, 2024
Aortic valve disease 26Jan 26, 2024
Aortic valve disease 32Jan 26, 2024
Apparent mineralocorticoid excess3Jan 26, 2024
Arginase deficiency5Jan 26, 2024
Argininosuccinate lyase deficiency14Jan 26, 2024
Ariboflavinosis1Jan 26, 2024
Arrhythmogenic right ventricular dysplasia 1110Jan 26, 2024
Arrhythmogenic right ventricular dysplasia 1310Jan 26, 2024
Arrhythmogenic right ventricular dysplasia 911Jan 26, 2024
Arterial tortuosity syndrome8Jan 26, 2024
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect5Jan 26, 2024
Arthrogryposis, distal, type 1C1Jan 26, 2024
Arthrogryposis, renal dysfunction, and cholestasis 21Jan 26, 2024
Aspartylglucosaminuria4Jan 26, 2024
Asphyxiating thoracic dystrophy 24Jan 26, 2024
Asphyxiating thoracic dystrophy 329Jan 26, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome23Jan 26, 2024
Ataxia with oculomotor apraxia type 33Jan 26, 2024
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4Jan 26, 2024
Ataxia-telangiectasia syndrome96Jan 26, 2024
Ataxia-telangiectasia-like disorder 132Jan 26, 2024
Atrial fibrillation, familial, 143Jan 26, 2024
Atrial fibrillation, familial, 72Jan 26, 2024
Atrial septal defect 41Jan 26, 2024
Atrial septal defect 65Jan 26, 2024
Atrioventricular septal defect, susceptibility to, 25Jan 26, 2024
Atypical glycine encephalopathy1Jan 26, 2024
Au-Kline syndrome1Jan 26, 2024
Auriculocondylar syndrome 11Jan 26, 2024
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3Jan 26, 2024
Autism spectrum disorder due to AUTS2 deficiency27Jan 26, 2024
Autism, susceptibility to, 59Jan 26, 2024
Autism, susceptibility to, X-linked 23Jan 26, 2024
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Jan 26, 2024
Autoimmune lymphoproliferative syndrome type 15Jan 26, 2024
Autoimmune lymphoproliferative syndrome type 2A7Jan 26, 2024
Autoimmune lymphoproliferative syndrome type 2B1Jan 26, 2024
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Jan 26, 2024
Autoinflammation, immune dysregulation, and eosinophilia3Jan 26, 2024
Autoinflammatory syndrome, familial, Behcet-like 14Jan 26, 2024
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency1Jan 26, 2024
Autosomal dominant Robinow syndrome 12Jan 26, 2024
Autosomal dominant Robinow syndrome 24Jan 26, 2024
Autosomal dominant Robinow syndrome 32Jan 26, 2024
Autosomal dominant auditory neuropathy 14Jan 26, 2024
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome25Jan 26, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)44Jan 26, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1F46Jan 26, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1G26Jan 26, 2024
Autosomal dominant nocturnal frontal lobe epilepsy 117Jan 26, 2024
Autosomal dominant nocturnal frontal lobe epilepsy 34Jan 26, 2024
Autosomal dominant nocturnal frontal lobe epilepsy 47Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 252Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 2A4Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 401Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 54Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 564Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 642Jan 26, 2024
Autosomal dominant nonsyndromic hearing loss 71Jan 26, 2024
Autosomal dominant omodysplasia1Jan 26, 2024
Autosomal dominant slowed nerve conduction velocity3Jan 26, 2024
Autosomal recessive DOPA responsive dystonia18Jan 26, 2024
Autosomal recessive ataxia due to ubiquinone deficiency9Jan 26, 2024
Autosomal recessive axonal neuropathy with neuromyotonia1Jan 26, 2024
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome4Jan 26, 2024
Autosomal recessive congenital ichthyosis 112Jan 26, 2024
Autosomal recessive congenital ichthyosis 111Jan 26, 2024
Autosomal recessive congenital ichthyosis 21Jan 26, 2024
Autosomal recessive congenital ichthyosis 34Jan 26, 2024
Autosomal recessive congenital ichthyosis 51Jan 26, 2024
Autosomal recessive congenital ichthyosis 62Jan 26, 2024
Autosomal recessive early-onset Parkinson disease 2311Jan 26, 2024
Autosomal recessive early-onset Parkinson disease 64Jan 26, 2024
Autosomal recessive hypophosphatemic bone disease11Jan 26, 2024
Autosomal recessive juvenile Parkinson disease 26Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2C59Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2D85Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2E66Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2W57Oct 15, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2X29Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2Y22Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type R1885Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 1022Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 151Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 164Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 18B19Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 221Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 241Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 289Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 317Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 307Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 43Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 424Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 493Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 61Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 611Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 633Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 671Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 742Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 761Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 7716Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 791Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 84Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 84B11Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 910Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 911Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 932Jan 26, 2024
Autosomal recessive optic atrophy, OPA7 type1Jan 26, 2024
Autosomal recessive osteopetrosis 111Jan 26, 2024
Autosomal recessive osteopetrosis 21Jan 26, 2024
Autosomal recessive osteopetrosis 51Jan 26, 2024
Autosomal recessive osteopetrosis 81Jan 26, 2024
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2Jan 26, 2024
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Jan 26, 2024
Autosomal recessive spastic paraplegia type 764Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 104Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 152Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 171Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 22Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 202Jan 26, 2024
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Jan 26, 2024
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 207Jan 26, 2024
Bailey-Bloch congenital myopathy5Jan 26, 2024
Bamforth-Lazarus syndrome2Jan 26, 2024
Bardet-Biedl syndrome 18Jan 26, 2024
Bardet-Biedl syndrome 1013Jan 26, 2024
Bardet-Biedl syndrome 128Jan 26, 2024
Bardet-Biedl syndrome 181Jan 26, 2024
Bardet-Biedl syndrome 411Jan 26, 2024
Bardet-Biedl syndrome 52Jan 26, 2024
Bardet-Biedl syndrome 73Jan 26, 2024
Bardet-Biedl syndrome 92Jan 26, 2024
Barrett esophagus1Jan 26, 2024
Bartter disease type 13Jan 26, 2024
Bartter disease type 26Jan 26, 2024
Bartter disease type 4A3Jan 26, 2024
Bartter disease type 4B2Jan 26, 2024
Bartter disease type 51Jan 26, 2024
Basal ganglia calcification, idiopathic, 61Jan 26, 2024
Basilicata-Akhtar syndrome3Jan 26, 2024
Beaded hair1Jan 26, 2024
Beck-Fahrner syndrome2Jan 26, 2024
Bernard Soulier syndrome4Jan 26, 2024
Beta-D-mannosidosis6Jan 26, 2024
Beta-hydroxyisobutyryl-CoA deacylase deficiency5Jan 26, 2024
Bietti crystalline corneoretinal dystrophy2Jan 26, 2024
Biotin-responsive basal ganglia disease5Jan 26, 2024
Biotinidase deficiency22Jan 26, 2024
Blau syndrome4Jan 26, 2024
Blepharocheilodontic syndrome 22Jan 26, 2024
Blood group, Gerbich system12Jan 26, 2024
Bloom syndrome30Jan 26, 2024
Bohring-Opitz syndrome12Jan 26, 2024
Bone fragility with contractures, arterial rupture, and deafness3Jan 26, 2024
Borjeson-Forssman-Lehmann syndrome3Jan 26, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome6Jan 26, 2024
Brachydactyly-arterial hypertension syndrome2Jan 26, 2024
Brain dopamine-serotonin vesicular transport disease2Jan 26, 2024
Brain malformations with or without urinary tract defects1Jan 26, 2024
Brain small vessel disease 33Jan 26, 2024
Branched-chain keto acid dehydrogenase kinase deficiency1Jan 26, 2024
Branchiooculofacial syndrome4Jan 26, 2024
Branchiootorenal syndrome 24Jan 26, 2024
Brittle cornea syndrome 117Jan 26, 2024
Brittle cornea syndrome 24Jan 26, 2024
Brody myopathy107Jan 26, 2024
Brown-Vialetto-van Laere syndrome 24Jan 26, 2024
Bruck syndrome 24Jan 26, 2024
Brugada syndrome 21Jan 26, 2024
Brugada syndrome 45Jan 26, 2024
Brugada syndrome 61Jan 26, 2024
Brunner syndrome1Jan 26, 2024
Buratti-Harel syndrome1Jan 26, 2024
C syndrome2Jan 26, 2024
CCDC115-CDG1Jan 26, 2024
CFHR5 deficiency4Jan 26, 2024
CHIME syndrome2Jan 26, 2024
CODAS syndrome3Jan 26, 2024
COG1 congenital disorder of glycosylation3Jan 26, 2024
COG5-congenital disorder of glycosylation2Jan 26, 2024
COG7 congenital disorder of glycosylation4Jan 26, 2024
COG8-congenital disorder of glycosylation3Jan 26, 2024
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome4Jan 26, 2024
Camptomelic dysplasia8Jan 26, 2024
Candidiasis, familial, 61Jan 26, 2024
Capillary malformation-arteriovenous malformation 18Jan 26, 2024
Cardiac anomalies - developmental delay - facial dysmorphism syndrome28Jan 26, 2024
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2Jan 26, 2024
Cardiac valvular defect, developmental4Jan 26, 2024
Cardiac, facial, and digital anomalies with developmental delay4Jan 26, 2024
Cardioacrofacial dysplasia 11Jan 26, 2024
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21Jan 26, 2024
Cardiofaciocutaneous syndrome 31Jan 26, 2024
Cardiofaciocutaneous syndrome 44Jan 26, 2024
Cardiomyopathy, dilated, 2G2Jan 26, 2024
Cardiomyopathy, dilated, 2I1Jan 26, 2024
Cardiomyopathy, familial hypertrophic 2714Jan 26, 2024
Cardiomyopathy, familial hypertrophic, 281Jan 26, 2024
Cardiomyopathy-hypotonia-lactic acidosis syndrome1Jan 26, 2024
Carey-Fineman-Ziter syndrome 12Jan 26, 2024
Carnitine acylcarnitine translocase deficiency2Jan 26, 2024
Carnitine palmitoyl transferase 1A deficiency9Jan 26, 2024
Cataract 1 multiple types2Jan 26, 2024
Cataract 10 multiple types1Jan 26, 2024
Cataract 12 multiple types2Jan 26, 2024
Cataract 17 multiple types1Jan 26, 2024
Cataract 181Jan 26, 2024
Cataract 19 multiple types1Jan 26, 2024
Cataract 2, multiple types1Jan 26, 2024
Cataract 20 multiple types1Jan 26, 2024
Cataract 3 multiple types3Jan 26, 2024
Cataract 451Jan 26, 2024
Cataract 6 multiple types2Jan 26, 2024
Cataract 9 multiple types2Jan 26, 2024
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1Jan 26, 2024
Catecholaminergic polymorphic ventricular tachycardia 27Jan 26, 2024
Catecholaminergic polymorphic ventricular tachycardia 59Jan 26, 2024
Catel-Manzke syndrome3Jan 26, 2024
Catifa syndrome1Jan 26, 2024
Cayman type cerebellar ataxia2Jan 26, 2024
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction1Jan 26, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 18Jan 26, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 48Jan 26, 2024
Cerebellar ataxia-hypogonadism syndrome4Jan 26, 2024
Cerebellar atrophy with seizures and variable developmental delay6Jan 26, 2024
Cerebellar atrophy, visual impairment, and psychomotor retardation;6Jan 26, 2024
Cerebellar dysfunction with variable cognitive and behavioral abnormalities17Jan 26, 2024
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1Jan 26, 2024
Cerebellar-facial-dental syndrome2Jan 26, 2024
Cerebral cavernous malformation5Jan 26, 2024
Cerebral cavernous malformation 21Jan 26, 2024
Cerebral cavernous malformation 31Jan 26, 2024
Cerebral folate transport deficiency1Jan 26, 2024
Cerebral palsy, spastic quadriplegic, 23Jan 26, 2024
Cerebro-costo-mandibular syndrome1Jan 26, 2024
Cerebrooculofacioskeletal syndrome 42Jan 26, 2024
Cerebroretinal microangiopathy with calcifications and cysts 112Jan 26, 2024
Cerebroretinal microangiopathy with calcifications and cysts 21Jan 26, 2024
Cernunnos-XLF deficiency1Jan 26, 2024
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)3Jan 26, 2024
Charcot-Marie-Tooth disease X-linked dominant 16Jan 26, 2024
Charcot-Marie-Tooth disease X-linked dominant 61Jan 26, 2024
Charcot-Marie-Tooth disease axonal type 2CC11Jan 26, 2024
Charcot-Marie-Tooth disease axonal type 2P5Jan 26, 2024
Charcot-Marie-Tooth disease dominant intermediate F2Jan 26, 2024
Charcot-Marie-Tooth disease type 1C1Jan 26, 2024
Charcot-Marie-Tooth disease type 2A113Jan 26, 2024
Charcot-Marie-Tooth disease type 2R1Jan 26, 2024
Charcot-Marie-Tooth disease type 4B11Jan 26, 2024
Charcot-Marie-Tooth disease type 4B24Jan 26, 2024
Charcot-Marie-Tooth disease type 4B34Jan 26, 2024
Charcot-Marie-Tooth disease type 4D5Jan 26, 2024
Charcot-Marie-Tooth disease type 4H4Jan 26, 2024
Charcot-Marie-Tooth disease, axonal, type 2FF1Jan 26, 2024
Charcot-Marie-Tooth disease, demyelinating, type 1J2Jan 26, 2024
Charlevoix-Saguenay spastic ataxia41Jan 26, 2024
Childhood apraxia of speech5Jan 26, 2024
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency4Jan 26, 2024
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder4Jan 26, 2024
Chilton-Okur-Chung neurodevelopmental syndrome5Jan 26, 2024
Chitotriosidase deficiency1Jan 26, 2024
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Jan 26, 2024
Cholestanol storage disease17Jan 26, 2024
Cholestasis, progressive familial intrahepatic, 52Jan 26, 2024
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss1Jan 26, 2024
Chopra-Amiel-Gordon syndrome3Jan 26, 2024
Chorea-acanthocytosis17Jan 26, 2024
Christianson syndrome6Jan 26, 2024
Chromosome 2q32-q33 deletion syndrome10Jan 26, 2024
Chronic atrial and intestinal dysrhythmia1Jan 26, 2024
Chudley-McCullough syndrome3Jan 26, 2024
Chylomicron retention disease2Jan 26, 2024
Chédiak-Higashi syndrome140Jan 26, 2024
Ciliary dyskinesia, primary, 36, X-linked1Jan 26, 2024
Ciliary dyskinesia, primary, 392Jan 26, 2024
Ciliary dyskinesia, primary, 4015Jan 26, 2024
Ciliary dyskinesia, primary, 411Jan 26, 2024
Ciliary dyskinesia, primary, 422Jan 26, 2024
Ciliary dyskinesia, primary, 461Jan 26, 2024
Ciliary dyskinesia, primary, 47, and lissencephaly2Jan 26, 2024
Ciliary dyskinesia, primary, 512Jan 26, 2024
Citrullinemia type I22Jan 26, 2024
Clark-Baraitser syndrome16Jan 26, 2024
Classic dopamine transporter deficiency syndrome3Jan 26, 2024
Classic homocystinuria21Jan 26, 2024
Cobalamin C disease27Jan 26, 2024
Cobblestone lissencephaly without muscular or ocular involvement15Jan 26, 2024
Coenzyme Q10 deficiency, primary, 18Jan 26, 2024
Coenzyme Q10 deficiency, primary, 33Jan 26, 2024
Coffin-Siris syndrome 157Jan 26, 2024
Coffin-Siris syndrome 101Jan 26, 2024
Coffin-Siris syndrome 112Jan 26, 2024
Coffin-Siris syndrome 125Jan 26, 2024
Coffin-Siris syndrome 53Jan 26, 2024
Coffin-Siris syndrome 612Jan 26, 2024
Coffin-Siris syndrome 72Jan 26, 2024
Coffin-Siris syndrome 88Jan 26, 2024
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome4Jan 26, 2024
Cohen syndrome45Jan 26, 2024
Cold-induced sweating syndrome 11Jan 26, 2024
Cole-Carpenter syndrome 12Jan 26, 2024
Cole-Carpenter syndrome 24Jan 26, 2024
Coloboma, ocular, autosomal recessive1Jan 26, 2024
Combined deficiency of sialidase AND beta galactosidase1Jan 26, 2024
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1Jan 26, 2024
Combined immunodeficiency due to DOCK8 deficiency16Jan 26, 2024
Combined immunodeficiency due to GINS1 deficiency1Jan 26, 2024
Combined immunodeficiency due to LRBA deficiency10Jan 26, 2024
Combined immunodeficiency due to moesin deficiency1Jan 26, 2024
Combined malonic and methylmalonic acidemia15Jan 26, 2024
Combined oxidative phosphorylation defect type 114Jan 26, 2024
Combined oxidative phosphorylation defect type 176Jan 26, 2024
Combined oxidative phosphorylation defect type 203Jan 26, 2024
Combined oxidative phosphorylation defect type 213Jan 26, 2024
Combined oxidative phosphorylation defect type 232Jan 26, 2024
Combined oxidative phosphorylation defect type 275Jan 26, 2024
Combined oxidative phosphorylation deficiency 323Jan 26, 2024
Combined oxidative phosphorylation deficiency 353Jan 26, 2024
Combined oxidative phosphorylation deficiency 362Jan 26, 2024
Combined oxidative phosphorylation deficiency 392Jan 26, 2024
Combined oxidative phosphorylation deficiency 421Jan 26, 2024
Combined oxidative phosphorylation deficiency 444Jan 26, 2024
Combined oxidative phosphorylation deficiency 461Jan 26, 2024
Combined oxidative phosphorylation deficiency 522Jan 26, 2024
Combined oxidative phosphorylation deficiency 554Jan 26, 2024
Complement component 3 deficiency1Jan 26, 2024
Complement component 6 deficiency1Jan 26, 2024
Complement component 9 deficiency2Jan 26, 2024
Complement factor b deficiency1Jan 26, 2024
Complex cortical dysplasia with other brain malformations 24Jan 26, 2024
Complex cortical dysplasia with other brain malformations 34Jan 26, 2024
Complex cortical dysplasia with other brain malformations 44Jan 26, 2024
Complex cortical dysplasia with other brain malformations 72Jan 26, 2024
Compton-North congenital myopathy2Jan 26, 2024
Cone dystrophy with supernormal rod response3Jan 26, 2024
Cone-rod dystrophy 191Jan 26, 2024
Cone-rod dystrophy 201Jan 26, 2024
Cone-rod dystrophy 211Jan 26, 2024
Cone-rod dystrophy and hearing loss 11Jan 26, 2024
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2Jan 26, 2024
Congenital anomalies of kidney and urinary tract 21Jan 26, 2024
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3Jan 26, 2024
Congenital bile acid synthesis defect 13Jan 26, 2024
Congenital bile acid synthesis defect 22Jan 26, 2024
Congenital bile acid synthesis defect 62Jan 26, 2024
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3Jan 26, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Jan 26, 2024
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Jan 26, 2024
Congenital cerebellar hypoplasia1Jan 26, 2024
Congenital defect of folate absorption1Jan 26, 2024
Congenital diarrhea 7 with exudative enteropathy2Jan 26, 2024
Congenital disorder of deglycosylation 15Jan 26, 2024
Congenital disorder of glycosylation type 1E2Jan 26, 2024
Congenital disorder of glycosylation with defective fucosylation 11Jan 26, 2024
Congenital disorder of glycosylation with defective fucosylation 21Jan 26, 2024
Congenital disorder of glycosylation, type IIq1Jan 26, 2024
Congenital dyserythropoietic anemia type type 1B4Jan 26, 2024
Congenital dyserythropoietic anemia, type III23Jan 26, 2024
Congenital factor VII deficiency5Jan 26, 2024
Congenital generalized lipodystrophy type 411Jan 26, 2024
Congenital glucose-galactose malabsorption2Jan 26, 2024
Congenital heart defects and ectodermal dysplasia4Jan 26, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder12Jan 26, 2024
Congenital heart defects, multiple types, 24Jan 26, 2024
Congenital heart defects, multiple types, 58Jan 26, 2024
Congenital heart defects, multiple types, 91Jan 26, 2024
Congenital hyperammonemia, type I20Jan 26, 2024
Congenital insensitivity to pain-hypohidrosis syndrome1Jan 26, 2024
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type18Jan 26, 2024
Congenital lipoid adrenal hyperplasia due to STAR deficency6Jan 26, 2024
Congenital malabsorptive diarrhea 41Jan 26, 2024
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome12Jan 26, 2024
Congenital muscular dystrophy due to integrin alpha-7 deficiency119Jan 26, 2024
Congenital muscular dystrophy with cataracts and intellectual disability1Jan 26, 2024
Congenital myasthenic syndrome 101Oct 11, 2024
Congenital myasthenic syndrome 122Jan 26, 2024
Congenital myasthenic syndrome 1910Jan 26, 2024
Congenital myasthenic syndrome 211Jan 26, 2024
Congenital myasthenic syndrome 542Jan 26, 2024
Congenital myasthenic syndrome 841Jan 26, 2024
Congenital myopathy 205Jan 26, 2024
Congenital myopathy with internal nuclei and atypical cores8Jan 26, 2024
Congenital neutropenia-myelofibrosis-nephromegaly syndrome2Jan 26, 2024
Congenital nongoitrous hypothyroidism 61Jan 26, 2024
Congenital secretory diarrhea, chloride type2Jan 26, 2024
Congenital secretory sodium diarrhea 31Jan 26, 2024
Congenital secretory sodium diarrhea 83Jan 26, 2024
Congenital sensory neuropathy with selective loss of small myelinated fibers1Jan 26, 2024
Congenital stationary night blindness 1B4Jan 26, 2024
Congenital stationary night blindness 1C5Jan 26, 2024
Congenital stationary night blindness 1E3Jan 26, 2024
Congenital stationary night blindness 1F1Jan 26, 2024
Congenital vertical talus3Jan 26, 2024
Conotruncal heart malformations5Jan 26, 2024
Cornea plana 21Jan 26, 2024
Corneal dystrophy, Meesmann, 11Jan 26, 2024
Cornelia de Lange syndrome 121Jan 26, 2024
Cornelia de Lange syndrome 33Jan 26, 2024
Cornelia de Lange syndrome 52Jan 26, 2024
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2Jan 26, 2024
Cortical dysplasia-focal epilepsy syndrome28Jan 26, 2024
Corticosteroid-binding globulin deficiency1Jan 26, 2024
Cortisone reductase deficiency 12Jan 26, 2024
Costello syndrome8Jan 26, 2024
Cowden syndrome 41Jan 26, 2024
Cowden syndrome 52Jan 26, 2024
Cranioectodermal dysplasia 16Jan 26, 2024
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Jan 26, 2024
Craniofrontonasal syndrome2Jan 26, 2024
Craniolenticulosutural dysplasia1Jan 26, 2024
Craniosynostosis and dental anomalies1Jan 26, 2024
Creatine transporter deficiency4Jan 26, 2024
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2Jan 26, 2024
Currarino triad3Jan 26, 2024
Cutaneous porphyria2Jan 26, 2024
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies6Jan 26, 2024
Cutis laxa, autosomal recessive, type 1B4Jan 26, 2024
Cystic leukoencephalopathy without megalencephaly5Jan 26, 2024
Cystinuria28Jan 26, 2024
D-Glyceric aciduria4Jan 26, 2024
DK1-congenital disorder of glycosylation4Jan 26, 2024
DNA ligase IV deficiency4Jan 26, 2024
DOCK2 deficiency3Jan 26, 2024
DYRK1A-related intellectual disability syndrome12Jan 26, 2024
Dalmatian hypouricemia4Jan 26, 2024
Danon disease4Jan 26, 2024
DeSanto-Shinawi syndrome due to WAC point mutation12Jan 26, 2024
Deafness with labyrinthine aplasia, microtia, and microdontia1Jan 26, 2024
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1Jan 26, 2024
Deficiency of 2-methylbutyryl-CoA dehydrogenase10Jan 26, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase16Jan 26, 2024
Deficiency of acetyl-CoA acetyltransferase8Jan 26, 2024
Deficiency of alpha-mannosidase16Jan 26, 2024
Deficiency of aromatic-L-amino-acid decarboxylase6Jan 26, 2024
Deficiency of beta-ureidopropionase3Jan 26, 2024
Deficiency of bisphosphoglycerate mutase1Jan 26, 2024
Deficiency of butyryl-CoA dehydrogenase15Jan 26, 2024
Deficiency of butyrylcholinesterase14Jan 26, 2024
Deficiency of cytochrome-b5 reductase22Jan 26, 2024
Deficiency of ferroxidase5Jan 26, 2024
Deficiency of galactokinase8Jan 26, 2024
Deficiency of guanidinoacetate methyltransferase13Jan 26, 2024
Deficiency of hydroxymethylglutaryl-CoA lyase6Jan 26, 2024
Deficiency of isobutyryl-CoA dehydrogenase8Jan 26, 2024
Deficiency of malonyl-CoA decarboxylase9Jan 26, 2024
Deficiency of steroid 17-alpha-monooxygenase3Jan 26, 2024
Deficiency of transaldolase3Jan 26, 2024
Dehydrated hereditary stomatocytosis 219Jan 26, 2024
Dermatofibrosis lenticularis disseminata2Jan 26, 2024
Desbuquois dysplasia 22Jan 26, 2024
Desmosterolosis2Jan 26, 2024
Developmental and epileptic encephalopathy 1121Jan 26, 2024
Developmental and epileptic encephalopathy 926Jan 26, 2024
Developmental and epileptic encephalopathy 9430Jan 26, 2024
Developmental and epileptic encephalopathy 961Jan 26, 2024
Developmental and epileptic encephalopathy, 125Jan 26, 2024
Developmental and epileptic encephalopathy, 1831Jan 26, 2024
Developmental and epileptic encephalopathy, 199Jan 26, 2024
Developmental and epileptic encephalopathy, 210Jan 26, 2024
Developmental and epileptic encephalopathy, 211Jan 26, 2024
Developmental and epileptic encephalopathy, 239Jan 26, 2024
Developmental and epileptic encephalopathy, 255Jan 26, 2024
Developmental and epileptic encephalopathy, 268Jan 26, 2024
Developmental and epileptic encephalopathy, 36Jan 26, 2024
Developmental and epileptic encephalopathy, 309Jan 26, 2024
Developmental and epileptic encephalopathy, 323Jan 26, 2024
Developmental and epileptic encephalopathy, 347Jan 26, 2024
Developmental and epileptic encephalopathy, 3612Jan 26, 2024
Developmental and epileptic encephalopathy, 375Jan 26, 2024
Developmental and epileptic encephalopathy, 381Jan 26, 2024
Developmental and epileptic encephalopathy, 391Jan 26, 2024
Developmental and epileptic encephalopathy, 417Jan 26, 2024
Developmental and epileptic encephalopathy, 402Jan 26, 2024
Developmental and epileptic encephalopathy, 4112Jan 26, 2024
Developmental and epileptic encephalopathy, 436Jan 26, 2024
Developmental and epileptic encephalopathy, 453Jan 26, 2024
Developmental and epileptic encephalopathy, 4610Jan 26, 2024
Developmental and epileptic encephalopathy, 473Jan 26, 2024
Developmental and epileptic encephalopathy, 487Jan 26, 2024
Developmental and epileptic encephalopathy, 494Jan 26, 2024
Developmental and epileptic encephalopathy, 505Jan 26, 2024
Developmental and epileptic encephalopathy, 513Jan 26, 2024
Developmental and epileptic encephalopathy, 548Jan 26, 2024
Developmental and epileptic encephalopathy, 551Jan 26, 2024
Developmental and epileptic encephalopathy, 561Jan 26, 2024
Developmental and epileptic encephalopathy, 573Jan 26, 2024
Developmental and epileptic encephalopathy, 601Jan 26, 2024
Developmental and epileptic encephalopathy, 612Jan 26, 2024
Developmental and epileptic encephalopathy, 644Jan 26, 2024
Developmental and epileptic encephalopathy, 657Jan 26, 2024
Developmental and epileptic encephalopathy, 6612Jan 26, 2024
Developmental and epileptic encephalopathy, 6718Jan 26, 2024
Developmental and epileptic encephalopathy, 683Jan 26, 2024
Developmental and epileptic encephalopathy, 6914Jan 26, 2024
Developmental and epileptic encephalopathy, 706Jan 26, 2024
Developmental and epileptic encephalopathy, 723Jan 26, 2024
Developmental and epileptic encephalopathy, 751Jan 26, 2024
Developmental and epileptic encephalopathy, 774Jan 26, 2024
Developmental and epileptic encephalopathy, 785Jan 26, 2024
Developmental and epileptic encephalopathy, 793Jan 26, 2024
Developmental and epileptic encephalopathy, 85Jan 26, 2024
Developmental and epileptic encephalopathy, 805Jan 26, 2024
Developmental and epileptic encephalopathy, 821Jan 26, 2024
Developmental and epileptic encephalopathy, 843Jan 26, 2024
Developmental and epileptic encephalopathy, 861Jan 26, 2024
Developmental and epileptic encephalopathy, 915Jan 26, 2024
Developmental delay with or without intellectual impairment or behavioral abnormalities1Jan 26, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair 14Jan 26, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities33Jan 26, 2024
Developmental delay with variable neurologic and brain abnormalities1Jan 26, 2024
Developmental delay, impaired speech, and behavioral abnormalities9Jan 26, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jan 26, 2024
Diabetes mellitus, transient neonatal, 12Jan 26, 2024
Diamond-Blackfan anemia 16Jan 26, 2024
Diamond-Blackfan anemia 108Jan 26, 2024
Diamond-Blackfan anemia 32Jan 26, 2024
Diamond-Blackfan anemia 56Jan 26, 2024
Diamond-Blackfan anemia 611Jan 26, 2024
Diamond-Blackfan anemia 77Jan 26, 2024
Diamond-Blackfan anemia 85Jan 26, 2024
Diaphanospondylodysostosis7Jan 26, 2024
Dias-Logan syndrome6Jan 26, 2024
Diencephalic-mesencephalic junction dysplasia syndrome 18Jan 26, 2024
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome11Jan 26, 2024
Dihydropteridine reductase deficiency4Jan 26, 2024
Dihydropyrimidinase deficiency3Jan 26, 2024
Dihydropyrimidine dehydrogenase deficiency8Jan 26, 2024
Dilated cardiomyopathy 1DD7Jan 26, 2024
Dilated cardiomyopathy 1JJ6Jan 26, 2024
Distal arthrogryposis type 2B12Jan 26, 2024
Distal arthrogryposis type 5D9Jan 26, 2024
Distichiasis-lymphedema syndrome3Jan 26, 2024
Donnai-Barrow syndrome13Jan 26, 2024
Dopa-responsive dystonia due to sepiapterin reductase deficiency5Jan 26, 2024
Doyne honeycomb retinal dystrophy3Jan 26, 2024
Duane retraction syndrome 21Jan 26, 2024
Dubin-Johnson syndrome10Jan 26, 2024
Dworschak-Punetha neurodevelopmental syndrome3Jan 26, 2024
Dyskeratosis congenita, autosomal dominant 61Jan 26, 2024
Dystonia 162Jan 26, 2024
Dystonia 245Jan 26, 2024
Dystonia 301Jan 26, 2024
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome22Jan 26, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome3Jan 26, 2024
Ectodermal dysplasia 9, hair/nail type2Jan 26, 2024
Ectodermal dysplasia and immunodeficiency 21Jan 26, 2024
Ectodermal dysplasia-syndactyly syndrome 11Jan 26, 2024
Ehlers-Danlos syndrome, classic type, 214Jan 26, 2024
Ehlers-Danlos syndrome, classic-like, 24Jan 26, 2024
Ehlers-Danlos syndrome, dermatosparaxis type8Jan 26, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 16Jan 26, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type, 21Jan 26, 2024
Ehlers-Danlos syndrome, musculocontractural type 13Jan 26, 2024
Ehlers-Danlos syndrome, musculocontractural type 21Jan 26, 2024
Ehlers-Danlos syndrome, periodontal type 13Jan 26, 2024
Ehlers-Danlos syndrome, spondylocheirodysplastic type3Jan 26, 2024
Ehlers-Danlos syndrome, spondylodysplastic type, 15Jan 26, 2024
Eichsfeld type congenital muscular dystrophy54Jan 26, 2024
Elliptocytosis 122Jan 26, 2024
Emery-Dreifuss muscular dystrophy 1, X-linked21Jan 26, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant339Jan 26, 2024
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Jan 26, 2024
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1Jan 26, 2024
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12Jan 26, 2024
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome4Jan 26, 2024
Enterokinase deficiency4Jan 26, 2024
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1Jan 26, 2024
Epidermolysis bullosa simplex due to plakophilin deficiency2Jan 26, 2024
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1Jan 26, 2024
Epilepsy, early-onset, vitamin B6-dependent4Jan 26, 2024
Epilepsy, familial adult myoclonic, 21Jan 26, 2024
Epilepsy, familial adult myoclonic, 52Jan 26, 2024
Epilepsy, familial focal, with variable foci 26Jan 26, 2024
Epilepsy, familial focal, with variable foci 38Jan 26, 2024
Epilepsy, idiopathic generalized, susceptibility to, 175Jan 26, 2024
Epilepsy, progressive myoclonic, 113Jan 26, 2024
Epilepsy, progressive myoclonic, 1B5Jan 26, 2024
Episodic ataxia type 16Jan 26, 2024
Episodic ataxia type 51Jan 26, 2024
Episodic ataxia type 65Jan 26, 2024
Episodic pain syndrome, familial, 29Jan 26, 2024
Erythrocytosis, familial, 44Jan 26, 2024
Essential fructosuria1Jan 26, 2024
Essential hypertension, genetic1Jan 26, 2024
Ethylmalonic encephalopathy4Jan 26, 2024
Exudative vitreoretinopathy 13Jan 26, 2024
FRAXE10Jan 26, 2024
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome5Jan 26, 2024
Factor I deficiency3Jan 26, 2024
Factor XIII, A subunit, deficiency of2Jan 26, 2024
Factor XIII, b subunit, deficiency of1Jan 26, 2024
Familial X-linked hypophosphatemic vitamin D refractory rickets4Jan 26, 2024
Familial adenomatous polyposis 239Jan 26, 2024
Familial adenomatous polyposis 34Jan 26, 2024
Familial benign pemphigus1Jan 26, 2024
Familial cold autoinflammatory syndrome 211Jan 26, 2024
Familial dysautonomia2Jan 26, 2024
Familial encephalopathy with neuroserpin inclusion bodies2Jan 26, 2024
Familial episodic pain syndrome with predominantly upper body involvement2Jan 26, 2024
Familial hemophagocytic lymphohistiocytosis 317Jan 26, 2024
Familial hemophagocytic lymphohistiocytosis 41Jan 26, 2024
Familial hemophagocytic lymphohistiocytosis 56Jan 26, 2024
Familial hypobetalipoproteinemia 21Jan 26, 2024
Familial hypokalemia-hypomagnesemia32Jan 26, 2024
Familial infantile bilateral striatal necrosis1Jan 26, 2024
Familial infantile myasthenia49Jan 26, 2024
Familial isolated deficiency of vitamin E1Jan 26, 2024
Familial juvenile hyperuricemic nephropathy type 16Jan 26, 2024
Familial porphyria cutanea tarda3Jan 26, 2024
Familial pulmonary capillary hemangiomatosis2Jan 26, 2024
Familial renal glucosuria5Jan 26, 2024
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2Jan 26, 2024
Familial type 5 hyperlipoproteinemia2Jan 26, 2024
Fanconi anemia complementation group A58Jan 26, 2024
Fanconi anemia complementation group B6Jan 26, 2024
Fanconi anemia complementation group C18Jan 26, 2024
Fanconi anemia complementation group D224Jan 26, 2024
Fanconi anemia complementation group E7Jan 26, 2024
Fanconi anemia complementation group F2Jan 26, 2024
Fanconi anemia complementation group G11Jan 26, 2024
Fanconi anemia complementation group I7Jan 26, 2024
Fanconi anemia complementation group J41Jan 26, 2024
Fanconi anemia complementation group L4Jan 26, 2024
Fanconi anemia complementation group N27Jan 26, 2024
Fanconi anemia complementation group O7Jan 26, 2024
Fanconi anemia complementation group P17Jan 26, 2024
Fanconi anemia complementation group T1Jan 26, 2024
Fanconi renotubular syndrome 31Jan 26, 2024
Fanconi-Bickel syndrome4Jan 26, 2024
Fasting plasma glucose level quantitative trait locus 51Jan 26, 2024
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34Jan 26, 2024
Feingold syndrome type 13Jan 26, 2024
Female infertility due to zona pellucida defect1Jan 26, 2024
Fetal akinesia deformation sequence 42Jan 26, 2024
Fibrosis of extraocular muscles, congenital, 21Jan 26, 2024
Fibrosis of extraocular muscles, congenital, 51Jan 26, 2024
Filippi syndrome4Jan 26, 2024
Finnish congenital nephrotic syndrome18Jan 26, 2024
Finnish type amyloidosis1Jan 26, 2024
Fleck corneal dystrophy1Jan 26, 2024
Focal dermal hypoplasia2Jan 26, 2024
Focal segmental glomerulosclerosis 11Jan 26, 2024
Focal segmental glomerulosclerosis 21Jan 26, 2024
Focal segmental glomerulosclerosis 3, susceptibility to2Jan 26, 2024
Focal segmental glomerulosclerosis 61Jan 26, 2024
Focal segmental glomerulosclerosis 82Jan 26, 2024
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Jan 26, 2024
Fontaine progeroid syndrome1Jan 26, 2024
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome4Jan 26, 2024
Fowler syndrome1Jan 26, 2024
Frank-Ter Haar syndrome2Jan 26, 2024
Fraser syndrome 137Jan 26, 2024
Fraser syndrome 33Jan 26, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11Jan 26, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Jan 26, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72Jan 26, 2024
Fructose-biphosphatase deficiency3Jan 26, 2024
Fucosidosis3Jan 26, 2024
GCGR-related hyperglucagonemia1Jan 26, 2024
GM3 synthase deficiency6Jan 26, 2024
GNPTG-mucolipidosis4Jan 26, 2024
Gabriele de Vries syndrome5Jan 26, 2024
Galloway-Mowat syndrome 19Jan 26, 2024
Galloway-Mowat syndrome 2, X-linked1Jan 26, 2024
Galloway-Mowat syndrome 31Jan 26, 2024
Gamma-glutamylcysteine synthetase deficiency16Jan 26, 2024
Gastrointestinal defects and immunodeficiency syndrome 14Jan 26, 2024
Gaze palsy, familial horizontal, with progressive scoliosis 11Jan 26, 2024
Geleophysic dysplasia 12Jan 26, 2024
Generalized epilepsy with febrile seizures plus, type 92Jan 26, 2024
Geroderma osteodysplastica3Jan 26, 2024
Ghosal hematodiaphyseal dysplasia1Jan 26, 2024
Giant axonal neuropathy 14Jan 26, 2024
Giant axonal neuropathy 21Jan 26, 2024
Glaucoma 1, open angle, A2Jan 26, 2024
Glaucoma 1, open angle, G1Jan 26, 2024
Global developmental delay with or without impaired intellectual development14Jan 26, 2024
Global developmental delay with speech and behavioral abnormalities7Jan 26, 2024
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies3Jan 26, 2024
Glomuvenous malformation4Jan 26, 2024
Glucocorticoid deficiency with achalasia10Jan 26, 2024
Glucocorticoid resistance2Jan 26, 2024
Glutamate formiminotransferase deficiency1Jan 26, 2024
Glutamate pyruvate transaminase 2 deficiency1Jan 26, 2024
Glutaric aciduria, type 126Jan 26, 2024
Gluthathione peroxidase deficiency18Jan 26, 2024
Glycine encephalopathy 29Jan 26, 2024
Glycogen storage disease IXa18Jan 26, 2024
Glycogen storage disease IXb6Jan 26, 2024
Glycogen storage disease IXc2Jan 26, 2024
Glycogen storage disease IXd5Jan 26, 2024
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA19Jan 26, 2024
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2Jan 26, 2024
Glycogen storage disease due to muscle and heart glycogen synthase deficiency4Jan 26, 2024
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency8Jan 26, 2024
Glycogen storage disease type III33Jan 26, 2024
Glycogen storage disease type X4Jan 26, 2024
Glycogen storage disease, type V146Jan 26, 2024
Glycogen storage disease, type VI6Jan 26, 2024
Glycogen storage disease, type VII28Oct 16, 2024
Glycogen storage disorder due to hepatic glycogen synthase deficiency8Jan 26, 2024
Glycosylphosphatidylinositol biosynthesis defect 155Jan 26, 2024
Glycosylphosphatidylinositol biosynthesis defect 162Jan 26, 2024
Glycosylphosphatidylinositol biosynthesis defect 212Jan 26, 2024
Goldberg-Shprintzen syndrome1Jan 26, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative3Jan 26, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12Jan 26, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 26Jan 26, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Jan 26, 2024
Gray platelet syndrome1Jan 26, 2024
Griscelli syndrome type 12Jan 26, 2024
Griscelli syndrome type 24Jan 26, 2024
Griscelli syndrome type 33Jan 26, 2024
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2Jan 26, 2024
Growth delay due to insulin-like growth factor I resistance13Jan 26, 2024
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Jan 26, 2024
H syndrome1Jan 26, 2024
HNSHA due to aldolase A deficiency22Jan 26, 2024
HSD10 mitochondrial disease2Jan 26, 2024
Hamartoma of hypothalamus1Jan 26, 2024
Hao-Fountain syndrome1Jan 26, 2024
Hearing loss, X-linked 63Jan 26, 2024
Hearing loss, autosomal dominant 761Jan 26, 2024
Hearing loss, autosomal dominant 821Jan 26, 2024
Hearing loss, autosomal recessive 1111Jan 26, 2024
Hearing loss, autosomal recessive 1121Jan 26, 2024
Hearing loss, autosomal recessive 991Jan 26, 2024
Heme oxygenase 1 deficiency1Jan 26, 2024
Hemochromatosis type 13Jan 26, 2024
Hemochromatosis type 2A2Jan 26, 2024
Hemochromatosis type 2B1Jan 26, 2024
Hemochromatosis type 37Jan 26, 2024
Hemochromatosis type 41Jan 26, 2024
Hemolytic anemia due to adenylate kinase deficiency11Jan 26, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency29Jan 26, 2024
Hemolytic anemia due to glutathione reductase deficiency24Jan 26, 2024
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency16Jan 26, 2024
Hennekam lymphangiectasia-lymphedema syndrome 12Jan 26, 2024
Hepatic methionine adenosyltransferase deficiency6Jan 26, 2024
Hepatic veno-occlusive disease-immunodeficiency syndrome4Jan 26, 2024
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 19Jan 26, 2024
Hereditary acrodermatitis enteropathica3Jan 26, 2024
Hereditary antithrombin deficiency3Jan 26, 2024
Hereditary arterial and articular multiple calcification syndrome2Jan 26, 2024
Hereditary cerebral amyloid angiopathy, Icelandic type1Jan 26, 2024
Hereditary factor XI deficiency disease19Jan 26, 2024
Hereditary fructosuria5Jan 26, 2024
Hereditary insensitivity to pain with anhidrosis4Jan 26, 2024
Hereditary myopathy with lactic acidosis due to ISCU deficiency4Jan 26, 2024
Hereditary pancreatitis1Jan 26, 2024
Hereditary sensory and autonomic neuropathy with spastic paraplegia3Jan 26, 2024
Hereditary spastic paraplegia 126Jan 26, 2024
Hereditary spastic paraplegia 1522Jan 26, 2024
Hereditary spastic paraplegia 332Jan 26, 2024
Hereditary spastic paraplegia 355Jan 26, 2024
Hereditary spastic paraplegia 411Jan 26, 2024
Hereditary spastic paraplegia 464Jan 26, 2024
Hereditary spastic paraplegia 474Jan 26, 2024
Hereditary spastic paraplegia 4812Jan 26, 2024
Hereditary spastic paraplegia 496Jan 26, 2024
Hereditary spastic paraplegia 503Jan 26, 2024
Hereditary spastic paraplegia 542Jan 26, 2024
Hereditary spastic paraplegia 562Jan 26, 2024
Hereditary spastic paraplegia 63Jan 26, 2024
Hereditary spastic paraplegia 621Jan 26, 2024
Hereditary spastic paraplegia 718Jan 26, 2024
Hereditary spastic paraplegia 731Jan 26, 2024
Hereditary spherocytosis type 1199Jan 26, 2024
Hereditary spherocytosis type 537Jan 26, 2024
Hereditary xanthinuria type 16Jan 26, 2024
Hermansky-Pudlak syndrome 110Jan 26, 2024
Hermansky-Pudlak syndrome 101Jan 26, 2024
Hermansky-Pudlak syndrome 23Jan 26, 2024
Hermansky-Pudlak syndrome 312Jan 26, 2024
Hermansky-Pudlak syndrome 42Jan 26, 2024
Hermansky-Pudlak syndrome 53Jan 26, 2024
Hermansky-Pudlak syndrome 65Jan 26, 2024
Heterotaxy, visceral, 4, autosomal2Jan 26, 2024
Heterotaxy, visceral, 5, autosomal1Jan 26, 2024
Heterotaxy, visceral, 7, autosomal3Jan 26, 2024
Heterotaxy, visceral, 8, autosomal8Jan 26, 2024
High density lipoprotein cholesterol level quantitative trait locus 61Jan 26, 2024
High myopia-sensorineural deafness syndrome1Jan 26, 2024
Hirschsprung disease, cardiac defects, and autonomic dysfunction1Jan 26, 2024
Histidinemia1Jan 26, 2024
Hogue-Janssens syndrome 14Jan 26, 2024
Holocarboxylase synthetase deficiency11Jan 26, 2024
Holoprosencephaly 115Jan 26, 2024
Holoprosencephaly 41Jan 26, 2024
Holoprosencephaly 54Jan 26, 2024
Holt-Oram syndrome4Jan 26, 2024
Homocystinuria due to methylene tetrahydrofolate reductase deficiency18Jan 26, 2024
Houge-Janssens syndrome 24Jan 26, 2024
Houge-Janssens syndrome 31Jan 26, 2024
Hyaline fibromatosis syndrome3Jan 26, 2024
Hydatidiform mole, recurrent, 12Jan 26, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 214Jan 26, 2024
Hyper-IgM syndrome type 11Jan 26, 2024
Hyper-IgM syndrome type 51Jan 26, 2024
Hyperaldosteronism, familial, type IV18Jan 26, 2024
Hyperalphalipoproteinemia 17Jan 26, 2024
Hyperammonemia, type III8Jan 26, 2024
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency6Jan 26, 2024
Hypercalcemia, infantile, 19Jan 26, 2024
Hypercholanemia, familial, 21Jan 26, 2024
Hypercholesterolemia, autosomal dominant, 34Jan 26, 2024
Hypercholesterolemia, familial, 1124Jan 26, 2024
Hypercholesterolemia, familial, 414Jan 26, 2024
Hyperekplexia 17Jan 26, 2024
Hyperekplexia 33Jan 26, 2024
Hyperinsulinism-hyperammonemia syndrome3Jan 26, 2024
Hyperlysinemia2Jan 26, 2024
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1Jan 26, 2024
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase3Jan 26, 2024
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4Jan 26, 2024
Hyperparathyroidism, transient neonatal2Jan 26, 2024
Hyperphosphatasemia with bone disease1Jan 26, 2024
Hyperphosphatasia with intellectual disability syndrome 14Jan 26, 2024
Hyperphosphatasia with intellectual disability syndrome 24Jan 26, 2024
Hyperphosphatasia with intellectual disability syndrome 31Jan 26, 2024
Hyperphosphatasia with intellectual disability syndrome 47Jan 26, 2024
Hyperphosphatasia with intellectual disability syndrome 51Jan 26, 2024
Hyperprolinemia type 23Jan 26, 2024
Hypertrophic cardiomyopathy 161Jan 26, 2024
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome4Jan 26, 2024
Hyperuricemic nephropathy, familial juvenile type 41Jan 26, 2024
Hypogonadotropic hypogonadism 1 with or without anosmia1Jan 26, 2024
Hypogonadotropic hypogonadism 11 with or without anosmia1Jan 26, 2024
Hypogonadotropic hypogonadism 21 with or without anosmia1Jan 26, 2024
Hypogonadotropic hypogonadism 3 with or without anosmia5Jan 26, 2024
Hypogonadotropic hypogonadism 6 with or without anosmia2Jan 26, 2024
Hypogonadotropic hypogonadism 7 with or without anosmia2Jan 26, 2024
Hypogonadotropic hypogonadism 9 with or without anosmia1Jan 26, 2024
Hypomyelinating leukodystrophy 105Jan 26, 2024
Hypomyelinating leukodystrophy 31Jan 26, 2024
Hypomyelinating leukodystrophy 95Jan 26, 2024
Hypomyelination and Congenital Cataract2Jan 26, 2024
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1Jan 26, 2024
Hypoparathyroidism, deafness, renal disease syndrome3Jan 26, 2024
Hypoparathyroidism, familial isolated 11Jan 26, 2024
Hypophosphatemic nephrolithiasis/osteoporosis 21Jan 26, 2024
Hypophosphatemic rickets, autosomal recessive, 12Jan 26, 2024
Hypothalamic hypothyroidism1Jan 26, 2024
Hypothyroidism, congenital, nongoitrous, 24Jan 26, 2024
Hypotonia, ataxia, and delayed development syndrome11Jan 26, 2024
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome9Jan 26, 2024
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities4Jan 26, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 230Jan 26, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 310Jan 26, 2024
Hypotonia-failure to thrive-microcephaly syndrome1Jan 26, 2024
Hypotrichosis 61Jan 26, 2024
Hypotrichosis 72Jan 26, 2024
Hypouricemia, renal, 26Jan 26, 2024
Ichthyosis prematurity syndrome3Jan 26, 2024
Ichthyosis vulgaris11Jan 26, 2024
Idiopathic basal ganglia calcification 13Jan 26, 2024
Idiopathic hypereosinophilic syndrome10Jan 26, 2024
Imerslund-Grasbeck syndrome type 22Jan 26, 2024
Immunodeficiency 1043Jan 26, 2024
Immunodeficiency 1052Jan 26, 2024
Immunodeficiency 183Jan 26, 2024
Immunodeficiency 191Jan 26, 2024
Immunodeficiency 237Jan 26, 2024
Immunodeficiency 359Jan 26, 2024
Immunodeficiency 475Jan 26, 2024
Immunodeficiency 513Jan 26, 2024
Immunodeficiency 621Jan 26, 2024
Immunodeficiency 63 with lymphoproliferation and autoimmunity1Jan 26, 2024
Immunodeficiency 641Jan 26, 2024
Immunodeficiency 672Jan 26, 2024
Immunodeficiency 72 with autoinflammation3Jan 26, 2024
Immunodeficiency 752Jan 26, 2024
Immunodeficiency 761Jan 26, 2024
Immunodeficiency 771Jan 26, 2024
Immunodeficiency 78 with autoimmunity and developmental delay1Jan 26, 2024
Immunodeficiency 80 with or without congenital cardiomyopathy1Jan 26, 2024
Immunodeficiency 961Jan 26, 2024
Immunodeficiency due to MASP-2 deficiency3Jan 26, 2024
Immunodeficiency due to ficolin3 deficiency2Jan 26, 2024
Immunodeficiency, common variable, 102Jan 26, 2024
Immunodeficiency, common variable, 125Jan 26, 2024
Immunodeficiency, common variable, 141Jan 26, 2024
Immunodeficiency, common variable, 31Jan 26, 2024
Immunodeficiency, common variable, 41Jan 26, 2024
Immunodeficiency, common variable, 51Jan 26, 2024
Immunodeficiency, common variable, 62Jan 26, 2024
Immunodeficiency, common variable, 75Jan 26, 2024
Immunodeficiency, developmental delay, and hypohomocysteinemia1Jan 26, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Jan 26, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 31Jan 26, 2024
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Jan 26, 2024
Inborn glycerol kinase deficiency1Jan 26, 2024
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly5Jan 26, 2024
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Jan 26, 2024
Infantile liver failure syndrome 12Jan 26, 2024
Infantile nephronophthisis6Jan 26, 2024
Infantile-onset X-linked spinal muscular atrophy5Jan 26, 2024
Inflammatory bowel disease 251Jan 26, 2024
Inflammatory bowel disease 282Jan 26, 2024
Inherited obesity2Jan 26, 2024
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Jan 26, 2024
Intellectual developmental disorder 60 with seizures2Jan 26, 2024
Intellectual developmental disorder 619Jan 26, 2024
Intellectual developmental disorder and retinitis pigmentosa; IDDRP5Jan 26, 2024
Intellectual developmental disorder with autism and macrocephaly25Jan 26, 2024
Intellectual developmental disorder with autistic features and language delay, with or without seizures17Jan 26, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures4Jan 26, 2024
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Jan 26, 2024
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7Jan 26, 2024
Intellectual developmental disorder with dysmorphic facies and ptosis9Jan 26, 2024
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4Jan 26, 2024
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold5Jan 26, 2024
Intellectual developmental disorder with hypertelorism and distinctive facies1Jan 26, 2024
Intellectual developmental disorder with hypotonia and behavioral abnormalities3Jan 26, 2024
Intellectual developmental disorder with impaired language and dysmorphic facies1Jan 26, 2024
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Jan 26, 2024
Intellectual developmental disorder with macrocephaly, seizures, and speech delay5Jan 26, 2024
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects1Jan 26, 2024
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies1Jan 26, 2024
Intellectual developmental disorder with neuropsychiatric features1Jan 26, 2024
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia7Jan 26, 2024
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1Jan 26, 2024
Intellectual developmental disorder with poor growth and with or without seizures or ataxia13Jan 26, 2024
Intellectual developmental disorder with seizures and language delay17Jan 26, 2024
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Jan 26, 2024
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies5Jan 26, 2024
Intellectual developmental disorder, X-linked 1085Jan 26, 2024
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type3Jan 26, 2024
Intellectual developmental disorder, autosomal dominant 6414Jan 26, 2024
Intellectual developmental disorder, autosomal dominant 654Jan 26, 2024
Intellectual developmental disorder, autosomal dominant 661Jan 26, 2024
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities1Jan 26, 2024
Intellectual developmental disorder, autosomal recessive 671Jan 26, 2024
Intellectual developmental disorder, autosomal recessive 682Jan 26, 2024
Intellectual developmental disorder, autosomal recessive 691Jan 26, 2024
Intellectual disability, FRA12A type9Jan 26, 2024
Intellectual disability, X-linked 111Jan 26, 2024
Intellectual disability, X-linked 1011Jan 26, 2024
Intellectual disability, X-linked 1028Jan 26, 2024
Intellectual disability, X-linked 10410Jan 26, 2024
Intellectual disability, X-linked 1063Jan 26, 2024
Intellectual disability, X-linked 214Jan 26, 2024
Intellectual disability, X-linked 307Jan 26, 2024
Intellectual disability, X-linked 412Jan 26, 2024
Intellectual disability, X-linked 496Jan 26, 2024
Intellectual disability, X-linked 613Jan 26, 2024
Intellectual disability, X-linked 633Jan 26, 2024
Intellectual disability, X-linked 907Jan 26, 2024
Intellectual disability, X-linked 9310Jan 26, 2024
Intellectual disability, X-linked 961Jan 26, 2024
Intellectual disability, X-linked 975Jan 26, 2024
Intellectual disability, X-linked syndromic, Turner type25Jan 26, 2024
Intellectual disability, X-linked, syndromic, Bain type3Jan 26, 2024
Intellectual disability, X-linked, syndromic, Houge type5Jan 26, 2024
Intellectual disability, autosomal dominant 120Jan 26, 2024
Intellectual disability, autosomal dominant 101Jan 26, 2024
Intellectual disability, autosomal dominant 1416Jan 26, 2024
Intellectual disability, autosomal dominant 155Jan 26, 2024
Intellectual disability, autosomal dominant 1615Jan 26, 2024
Intellectual disability, autosomal dominant 206Jan 26, 2024
Intellectual disability, autosomal dominant 222Jan 26, 2024
Intellectual disability, autosomal dominant 273Jan 26, 2024
Intellectual disability, autosomal dominant 308Jan 26, 2024
Intellectual disability, autosomal dominant 333Jan 26, 2024
Intellectual disability, autosomal dominant 347Jan 26, 2024
Intellectual disability, autosomal dominant 3910Jan 26, 2024
Intellectual disability, autosomal dominant 4010Jan 26, 2024
Intellectual disability, autosomal dominant 422Jan 26, 2024
Intellectual disability, autosomal dominant 4333Jan 26, 2024
Intellectual disability, autosomal dominant 4513Jan 26, 2024
Intellectual disability, autosomal dominant 464Jan 26, 2024
Intellectual disability, autosomal dominant 479Jan 26, 2024
Intellectual disability, autosomal dominant 483Jan 26, 2024
Intellectual disability, autosomal dominant 524Jan 26, 2024
Intellectual disability, autosomal dominant 508Jan 26, 2024
Intellectual disability, autosomal dominant 514Jan 26, 2024
Intellectual disability, autosomal dominant 5237Jan 26, 2024
Intellectual disability, autosomal dominant 543Jan 26, 2024
Intellectual disability, autosomal dominant 564Jan 26, 2024
Intellectual disability, autosomal dominant 574Jan 26, 2024
Intellectual disability, autosomal dominant 582Jan 26, 2024
Intellectual disability, autosomal recessive 14Jan 26, 2024
Intellectual disability, autosomal recessive 1310Jan 26, 2024
Intellectual disability, autosomal recessive 21Jan 26, 2024
Intellectual disability, autosomal recessive 274Jan 26, 2024
Intellectual disability, autosomal recessive 313Jan 26, 2024
Intellectual disability, autosomal recessive 342Jan 26, 2024
Intellectual disability, autosomal recessive 421Jan 26, 2024
Intellectual disability, autosomal recessive 432Jan 26, 2024
Intellectual disability, autosomal recessive 443Jan 26, 2024
Intellectual disability, autosomal recessive 466Jan 26, 2024
Intellectual disability, autosomal recessive 479Jan 26, 2024
Intellectual disability, autosomal recessive 53Jan 26, 2024
Intellectual disability, autosomal recessive 512Jan 26, 2024
Intellectual disability, autosomal recessive 541Jan 26, 2024
Intellectual disability, autosomal recessive 572Jan 26, 2024
Intellectual disability, autosomal recessive 585Jan 26, 2024
Intellectual disability, autosomal recessive 612Jan 26, 2024
Intellectual disability, autosomal recessive 6510Jan 26, 2024
Intellectual disability, autosomal recessive 661Jan 26, 2024
Intellectual disability, autosomal recessive 71Jan 26, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency19Jan 26, 2024
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome5Jan 26, 2024
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome13Jan 26, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome23Jan 26, 2024
Intellectual disability-severe speech delay-mild dysmorphism syndrome13Jan 26, 2024
Intellectual disability-strabismus syndrome4Jan 26, 2024
Interstitial lung disease due to ABCA3 deficiency14Jan 26, 2024
Intestinal hypomagnesemia 13Jan 26, 2024
Iodotyrosyl coupling defect28Jan 26, 2024
Iron-refractory iron deficiency anemia3Jan 26, 2024
Isolated growth hormone deficiency, type 44Jan 26, 2024
Isolated hyperchlorhidrosis1Jan 26, 2024
Isolated microphthalmia 31Jan 26, 2024
Isolated microphthalmia 81Jan 26, 2024
Isolated thyroid-stimulating hormone deficiency2Jan 26, 2024
Isovaleryl-CoA dehydrogenase deficiency12Jan 26, 2024
Jaberi-Elahi syndrome4Jan 26, 2024
Johanson-Blizzard syndrome2Jan 26, 2024
Joint laxity, short stature, and myopia1Jan 26, 2024
Joubert syndrome 132Jan 26, 2024
Joubert syndrome 145Jan 26, 2024
Joubert syndrome 151Jan 26, 2024
Joubert syndrome 161Jan 26, 2024
Joubert syndrome 2114Jan 26, 2024
Joubert syndrome 221Jan 26, 2024
Joubert syndrome 261Jan 26, 2024
Joubert syndrome 314Jan 26, 2024
Joubert syndrome 303Jan 26, 2024
Joubert syndrome 333Jan 26, 2024
Joubert syndrome 362Jan 26, 2024
Joubert syndrome 84Jan 26, 2024
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1Jan 26, 2024
KBG syndrome37Jan 26, 2024
KINSSHIP syndrome1Jan 26, 2024
KNOPS BLOOD GROUP SYSTEM1Jan 26, 2024
Kabuki syndrome 27Jan 26, 2024
Kartagener syndrome5Jan 26, 2024
Karyomegalic interstitial nephritis5Jan 26, 2024
Keipert syndrome2Jan 26, 2024
Keratosis pilaris atrophicans2Jan 26, 2024
Keutel syndrome2Jan 26, 2024
Khan-Khan-Katsanis syndrome3Jan 26, 2024
Kindler syndrome1Jan 26, 2024
Kleefstra syndrome 124Jan 26, 2024
Kleefstra syndrome 261Jan 26, 2024
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome39Jan 26, 2024
Koolen-de Vries syndrome12Jan 26, 2024
Kostmann syndrome5Jan 26, 2024
L-2-hydroxyglutaric aciduria1Jan 26, 2024
LIPE-related familial partial lipodystrophy1Jan 26, 2024
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 71Jan 26, 2024
Lafora disease12Jan 26, 2024
Lamb-Shaffer syndrome9Jan 26, 2024
Landau-Kleffner syndrome26Jan 26, 2024
Leber congenital amaurosis 134Jan 26, 2024
Leber congenital amaurosis 141Jan 26, 2024
Leber congenital amaurosis 191Jan 26, 2024
Leber congenital amaurosis 33Jan 26, 2024
Leber congenital amaurosis 43Jan 26, 2024
Leber congenital amaurosis 53Jan 26, 2024
Left ventricular noncompaction 15Jan 26, 2024
Left ventricular noncompaction 73Jan 26, 2024
Left ventricular noncompaction 86Jan 26, 2024
Legius syndrome3Jan 26, 2024
Lenz-Majewski hyperostosis syndrome1Jan 26, 2024
Lessel-Kreienkamp syndrome2Jan 26, 2024
Lethal congenital contracture syndrome 111Jan 26, 2024
Lethal congenital contracture syndrome 31Jan 26, 2024
Lethal congenital contracture syndrome 82Jan 26, 2024
Lethal congenital contracture syndrome 91Jan 26, 2024
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Jan 26, 2024
Lethal osteosclerotic bone dysplasia1Jan 26, 2024
Lethal polymalformative syndrome, Boissel type4Jan 26, 2024
Leukocyte adhesion deficiency 14Jan 26, 2024
Leukocyte adhesion deficiency type II1Jan 26, 2024
Leukodystrophy and acquired microcephaly with or without dystonia;1Jan 26, 2024
Leukodystrophy, hypomyelinating, 152Jan 26, 2024
Leukodystrophy, hypomyelinating, 161Jan 26, 2024
Leukodystrophy, hypomyelinating, 181Jan 26, 2024
Leukodystrophy, hypomyelinating, 212Jan 26, 2024
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Jan 26, 2024
Leukoencephalopathy with vanishing white matter 13Jan 26, 2024
Leukoencephalopathy with vanishing white matter 22Jan 26, 2024
Leukoencephalopathy with vanishing white matter 31Jan 26, 2024
Leukoencephalopathy with vanishing white matter 42Jan 26, 2024
Leukoencephalopathy with vanishing white matter 56Jan 26, 2024
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate1Jan 26, 2024
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1Jan 26, 2024
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3Jul 29, 2024
Lewy body dementia1Jan 26, 2024
Li-Campeau syndrome1Jan 26, 2024
Lichtenstein-Knorr syndrome2Jan 26, 2024
Linear skin defects with multiple congenital anomalies 11Jan 26, 2024
Lipase deficiency, combined1Jan 26, 2024
Lipid proteinosis2Jan 26, 2024
Lipoyl transferase 1 deficiency1Jan 26, 2024
Lissencephaly 106Jan 26, 2024
Lissencephaly 6 with microcephaly7Jan 26, 2024
Lissencephaly 84Jan 26, 2024
Lissencephaly 9 with complex brainstem malformation7Jan 26, 2024
Lissencephaly due to LIS1 mutation3Jan 26, 2024
Lissencephaly due to TUBA1A mutation2Jan 26, 2024
Lissencephaly type 1 due to doublecortin gene mutation3Jan 26, 2024
Loeys-Dietz syndrome 14Jan 26, 2024
Loeys-Dietz syndrome 42Jan 26, 2024
Long QT syndrome 1111Jan 26, 2024
Long QT syndrome 122Jan 26, 2024
Loricrin keratoderma2Jan 26, 2024
Lymphedema-posterior choanal atresia syndrome4Jan 26, 2024
Lymphoproliferative syndrome 21Jan 26, 2024
Lysinuric protein intolerance3Jan 26, 2024
MEGF8-related Carpenter syndrome5Jan 26, 2024
MHC class I deficiency6Jan 26, 2024
MHC class II deficiency6Jan 26, 2024
MOGS-congenital disorder of glycosylation7Jan 26, 2024
MPDU1-congenital disorder of glycosylation1Jan 26, 2024
MPI-congenital disorder of glycosylation3Jan 26, 2024
Macrocephaly, acquired, with impaired intellectual development5Jan 26, 2024
Macrocephaly, dysmorphic facies, and psychomotor retardation9Jan 26, 2024
Macrocephaly-developmental delay syndrome2Jan 26, 2024
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome10Jan 26, 2024
Macrothrombocytopenia, isolated, 1, autosomal dominant4Jan 26, 2024
Macular corneal dystrophy1Jan 26, 2024
Majeed syndrome27Jan 26, 2024
Mandibular hypoplasia-deafness-progeroid syndrome6Jan 26, 2024
Mandibulofacial dysostosis-microcephaly syndrome10Jan 26, 2024
Maple syrup urine disease33Jan 26, 2024
Marinesco-Sjögren syndrome56Jan 26, 2024
Mast syndrome2Jan 26, 2024
Matthew-Wood syndrome1Jan 26, 2024
Maturity-onset diabetes of the young type 111Jan 26, 2024
Maturity-onset diabetes of the young type 63Jan 26, 2024
Maturity-onset diabetes of the young type 83Jan 26, 2024
McLeod neuroacanthocytosis syndrome7Jan 26, 2024
Medium-chain acyl-coenzyme A dehydrogenase deficiency31Jan 26, 2024
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations4Jan 26, 2024
Megaconial type congenital muscular dystrophy4Jan 26, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 17Jan 26, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting1Jan 26, 2024
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 16Jan 26, 2024
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Jan 26, 2024
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Jan 26, 2024
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2Jan 26, 2024
Meier-Gorlin syndrome 13Jan 26, 2024
Meier-Gorlin syndrome 21Jan 26, 2024
Meier-Gorlin syndrome 31Jan 26, 2024
Meier-Gorlin syndrome 43Jan 26, 2024
Meier-Gorlin syndrome 71Jan 26, 2024
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency1Jan 26, 2024
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2Jan 26, 2024
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency2Jan 26, 2024
Menke-Hennekam syndrome 11Jul 29, 2024
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Jan 26, 2024
Metachromatic leukodystrophy24Jan 26, 2024
Metaphyseal anadysplasia 21Jan 26, 2024
Metaphyseal chondrodysplasia, Schmid type3Jan 26, 2024
Methylcobalamin deficiency type cblE9Jan 26, 2024
Methylcobalamin deficiency type cblG8Jan 26, 2024
Methylmalonate semialdehyde dehydrogenase deficiency1Jan 26, 2024
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency2Jan 26, 2024
Methylmalonic acidemia due to transcobalamin receptor defect2Jan 26, 2024
Methylmalonic acidemia with homocystinuria, type cblJ6Jan 26, 2024
Methylmalonic acidemia with homocystinuria, type cblX22Jan 26, 2024
Methylmalonic aciduria and homocystinuria type cblD4Jan 26, 2024
Methylmalonic aciduria and homocystinuria type cblF7Jan 26, 2024
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency22Jan 26, 2024
Methylmalonic aciduria, cblA type11Jan 26, 2024
Methylmalonic aciduria, cblB type4Jan 26, 2024
Microcephalic osteodysplastic primordial dwarfism type II25Jan 26, 2024
Microcephalic primordial dwarfism due to RTTN deficiency12Jan 26, 2024
Microcephalic primordial dwarfism due to ZNF335 deficiency5Jan 26, 2024
Microcephalic primordial dwarfism, Alazami type7Jan 26, 2024
Microcephaly 1, primary, autosomal recessive13Jan 26, 2024
Microcephaly 13, primary, autosomal recessive1Jan 26, 2024
Microcephaly 15, primary, autosomal recessive1Jan 26, 2024
Microcephaly 17, primary, autosomal recessive5Jan 26, 2024
Microcephaly 18, primary, autosomal dominant12Jan 26, 2024
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations20Jan 26, 2024
Microcephaly 22, primary, autosomal recessive2Jan 26, 2024
Microcephaly 3, primary, autosomal recessive14Jan 26, 2024
Microcephaly 4, primary, autosomal recessive4Jan 26, 2024
Microcephaly 5, primary, autosomal recessive56Jan 26, 2024
Microcephaly 7, primary, autosomal recessive5Jan 26, 2024
Microcephaly 8, primary, autosomal recessive4Jan 26, 2024
Microcephaly and chorioretinopathy 110Jan 26, 2024
Microcephaly and chorioretinopathy 31Jan 26, 2024
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4Jan 26, 2024
Microcephaly, epilepsy, and diabetes syndrome 13Jan 26, 2024
Microcephaly, epilepsy, and diabetes syndrome 21Jan 26, 2024
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1Jan 26, 2024
Microcephaly, short stature, and impaired glucose metabolism 22Jan 26, 2024
Microcephaly-capillary malformation syndrome3Jan 26, 2024
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome8Jan 26, 2024
Microcephaly-thin corpus callosum-intellectual disability syndrome1Jan 26, 2024
Microcornea-myopic chorioretinal atrophy3Jan 26, 2024
Microphthalmia with limb anomalies2Jan 26, 2024
Microphthalmia, isolated, with coloboma 92Jan 26, 2024
Microphthalmia, syndromic 111Jan 26, 2024
Microphthalmia, syndromic 121Jan 26, 2024
Miller syndrome3Jan 26, 2024
Mitochondrial DNA depletion syndrome 18Jan 26, 2024
Mitochondrial DNA depletion syndrome 112Jan 26, 2024
Mitochondrial DNA depletion syndrome 1313Jan 26, 2024
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1Jan 26, 2024
Mitochondrial DNA depletion syndrome 95Jan 26, 2024
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria7Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 103Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 112Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 131Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 165Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 183Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 197Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 22Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 216Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 222Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 232Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 252Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 263Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 281Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 293Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 33Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 311Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 321Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 410Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 57Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 74Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 83Jan 26, 2024
Mitochondrial complex 1 deficiency, nuclear type 93Jan 26, 2024
Mitochondrial complex 4 deficiency, nuclear type 121Jan 26, 2024
Mitochondrial complex 4 deficiency, nuclear type 172Jan 26, 2024
Mitochondrial complex 4 deficiency, nuclear type 35Jan 26, 2024
Mitochondrial complex 4 deficiency, nuclear type 42Jan 26, 2024
Mitochondrial complex 4 deficiency, nuclear type 82Jan 26, 2024
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 52Jan 26, 2024
Mitochondrial complex III deficiency nuclear type 22Jan 26, 2024
Mitochondrial complex III deficiency nuclear type 53Jan 26, 2024
Mitochondrial complex III deficiency nuclear type 61Jan 26, 2024
Mitochondrial complex III deficiency nuclear type 83Jan 26, 2024
Mitochondrial complex V (ATP synthase) deficiency nuclear type 23Jan 26, 2024
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Jan 26, 2024
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency3Jan 26, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome6Jan 26, 2024
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency12Jan 26, 2024
Mitochondrial trifunctional protein deficiency 25Jan 26, 2024
Mosaic variegated aneuploidy syndrome 21Jan 26, 2024
Mowat-Wilson syndrome11Jan 26, 2024
Moyamoya disease with early-onset achalasia1Jan 26, 2024
Mucolipidosis type IV3Jan 26, 2024
Mucopolysaccharidosis type 628Jan 26, 2024
Mucopolysaccharidosis type 725Jan 26, 2024
Mucopolysaccharidosis, MPS-II37Jan 26, 2024
Mucopolysaccharidosis, MPS-III-A10Jan 26, 2024
Mucopolysaccharidosis, MPS-III-D2Jan 26, 2024
Mucopolysaccharidosis, MPS-IV-A47Jan 26, 2024
Mulibrey nanism syndrome4Jan 26, 2024
Multicentric osteolysis, nodulosis, and arthropathy2Jan 26, 2024
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome4Jan 26, 2024
Multiple acyl-CoA dehydrogenase deficiency24Jan 26, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 113Jan 26, 2024
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked2Jan 26, 2024
Multiple endocrine neoplasia type 41Jan 26, 2024
Multiple endocrine neoplasia, type 18Jan 26, 2024
Multiple mitochondrial dysfunctions syndrome 11Jan 26, 2024
Multiple mitochondrial dysfunctions syndrome 24Jan 26, 2024
Multiple mitochondrial dysfunctions syndrome 42Jan 26, 2024
Multiple mitochondrial dysfunctions syndrome 51Jan 26, 2024
Multiple mitochondrial dysfunctions syndrome 62Jan 26, 2024
Multiple sulfatase deficiency6Jan 26, 2024
Muscle AMP deaminase deficiency56Jan 26, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132Jan 26, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 104Jan 26, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1144Jan 26, 2024
Myasthenic syndrome, congenital, 229Jan 26, 2024
Myasthenic syndrome, congenital, 24, presynaptic4Jan 26, 2024
Myeloperoxidase deficiency6Jan 26, 2024
Myoclonic dystonia 1137Jan 26, 2024
Myoclonic-atonic epilepsy12Jan 26, 2024
Myoclonus, familial, 11Jan 26, 2024
Myofibrillar myopathy 344Jan 26, 2024
Myofibrillar myopathy 73Jan 26, 2024
Myoglobinuria, acute recurrent, autosomal recessive3Jan 26, 2024
Myopathy due to calsequestrin and SERCA1 protein overload11Jan 26, 2024
Myopathy with abnormal lipid metabolism1Jan 26, 2024
Myopathy, centronuclear, 231Jan 26, 2024
Myopathy, centronuclear, 540Jan 26, 2024
Myopathy, distal, 519Jan 26, 2024
Myopathy, lactic acidosis, and sideroblastic anemia 11Jan 26, 2024
Myopathy, lactic acidosis, and sideroblastic anemia 22Jan 26, 2024
Myopathy, proximal, and ophthalmoplegia113Jan 26, 2024
Myopia 21, autosomal dominant1Jan 26, 2024
Myopia 24, autosomal dominant1Jan 26, 2024
Myopia 25, autosomal dominant1Jan 26, 2024
Myopia 271Jan 26, 2024
Myopia, high, with cataract and vitreoretinal degeneration1Jan 26, 2024
Myotonic dystrophy type 21Jan 26, 2024
NAD(P)HX dehydratase deficiency3Jan 26, 2024
Nager syndrome2Jan 26, 2024
Nemaline myopathy 1010Jan 26, 2024
Nemaline myopathy 610Jan 26, 2024
Nemaline myopathy 74Jan 26, 2024
Nemaline myopathy 810Jan 26, 2024
Nemaline myopathy 95Jan 26, 2024
Neonatal diabetes mellitus with congenital hypothyroidism3Jan 26, 2024
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Jan 26, 2024
Neonatal ichthyosis-sclerosing cholangitis syndrome1Jan 26, 2024
Nephronophthisis 149Jan 26, 2024
Nephronophthisis 153Jan 26, 2024
Nephronophthisis 163Jan 26, 2024
Nephronophthisis 71Jan 26, 2024
Nephrotic syndrome 142Jan 26, 2024
Nephrotic syndrome, type 101Jan 26, 2024
Nephrotic syndrome, type 134Jan 26, 2024
Nephrotic syndrome, type 191Jan 26, 2024
Nephrotic syndrome, type 212Jan 26, 2024
Nephrotic syndrome, type 203Jan 26, 2024
Nephrotic syndrome, type 214Jan 26, 2024
Nephrotic syndrome, type 34Jan 26, 2024
Nephrotic syndrome, type 62Jan 26, 2024
Nephrotic syndrome, type 94Jan 26, 2024
Netherton syndrome3Jan 26, 2024
Neural tube defect2Jan 26, 2024
Neurodegeneration with brain iron accumulation 56Jan 26, 2024
Neurodegeneration with brain iron accumulation 82Jan 26, 2024
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Jan 26, 2024
Neurodegeneration, childhood-onset, with cerebellar atrophy6Jan 26, 2024
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities2Jan 26, 2024
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity14Jan 26, 2024
Neurodevelopmental disorder with absent language and variable seizures1Jan 26, 2024
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1Jan 26, 2024
Neurodevelopmental disorder with central and peripheral motor dysfunction8Jan 26, 2024
Neurodevelopmental disorder with central hypotonia and dysmorphic facies5Jan 26, 2024
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction5Jan 26, 2024
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities29Jan 26, 2024
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects1Jan 26, 2024
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies9Jan 26, 2024
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies6Jan 26, 2024
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities1Jan 26, 2024
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum2Jan 26, 2024
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum3Jan 26, 2024
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination6Jan 26, 2024
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy3Jan 26, 2024
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements1Jan 26, 2024
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities5Jan 26, 2024
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Jan 26, 2024
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures3Jan 26, 2024
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness8Jan 26, 2024
Neurodevelopmental disorder with hypotonia, seizures, and absent language16Jan 26, 2024
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Jan 26, 2024
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies1Jan 26, 2024
Neurodevelopmental disorder with impaired speech and hyperkinetic movements4Jan 26, 2024
Neurodevelopmental disorder with infantile epileptic spasms4Jan 26, 2024
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Jan 26, 2024
Neurodevelopmental disorder with language impairment and behavioral abnormalities2Jan 26, 2024
Neurodevelopmental disorder with microcephaly and structural brain anomalies3Jan 26, 2024
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies4Jan 26, 2024
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities7Jan 26, 2024
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1Jan 26, 2024
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy1Jan 26, 2024
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Jan 26, 2024
Neurodevelopmental disorder with midbrain and hindbrain malformations1Jan 26, 2024
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities4Jan 26, 2024
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures9Jan 26, 2024
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart28Jan 26, 2024
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities1Jan 26, 2024
Neurodevelopmental disorder with or without early-onset generalized epilepsy32Jan 26, 2024
Neurodevelopmental disorder with or without seizures and gait abnormalities5Jan 26, 2024
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA11Jan 26, 2024
Neurodevelopmental disorder with poor growth and behavioral abnormalities1Jan 26, 2024
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3Jan 26, 2024
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures10Jan 26, 2024
Neurodevelopmental disorder with seizures and gingival overgrowth1Jan 26, 2024
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements16Jan 26, 2024
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1Jan 26, 2024
Neurodevelopmental disorder with severe motor impairment and absent language11Jan 26, 2024
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties1Jan 26, 2024
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1Jan 26, 2024
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities1Jan 26, 2024
Neurodevelopmental disorder with speech delay and variable ocular anomalies1Jan 26, 2024
Neurodevelopmental disorder with speech impairment and with or without seizures2Jan 26, 2024
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Jan 26, 2024
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus2Jan 26, 2024
Neurodevelopmental, jaw, eye, and digital syndrome4Jan 26, 2024
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Jan 26, 2024
Neurofibromatosis, type 27Jan 26, 2024
Neurohypophyseal diabetes insipidus1Jan 26, 2024
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Jan 26, 2024
Neuromuscular disease and ocular or auditory anomalies with or without seizures6Jan 26, 2024
Neuronal ceroid lipofuscinosis 18Jan 26, 2024
Neuronal ceroid lipofuscinosis 104Jan 26, 2024
Neuronal ceroid lipofuscinosis 135Jan 26, 2024
Neuronal ceroid lipofuscinosis 33Jan 26, 2024
Neuronal ceroid lipofuscinosis 513Jan 26, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 53Jan 26, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 83Jan 26, 2024
Neuronopathy, distal hereditary motor, type 2C1Jan 26, 2024
Neuronopathy, distal hereditary motor, type 2D5Jan 26, 2024
Neuroocular syndrome3Jan 26, 2024
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1Jan 26, 2024
Neuropathy, hereditary sensory and autonomic, type 1C2Jan 26, 2024
Neuropathy, hereditary sensory and autonomic, type 2B1Jan 26, 2024
Neuropathy, hereditary sensory, type 1F2Jan 26, 2024
Neutral 1 amino acid transport defect3Jan 26, 2024
Neutral lipid storage myopathy62Jan 26, 2024
Niemann-Pick disease, type C130Jan 26, 2024
Niemann-Pick disease, type C26Jan 26, 2024
Nijmegen breakage syndrome-like disorder34Jan 26, 2024
Nizon-Isidor syndrome7Jan 26, 2024
Non-acquired combined pituitary hormone deficiency with spine abnormalities2Jan 26, 2024
Non-ketotic hyperglycinemia26Jan 26, 2024
Nonpersistence of intestinal lactase3Jan 26, 2024
Noonan syndrome 121Jan 26, 2024
Noonan syndrome 62Jan 26, 2024
Noonan syndrome 88Jan 26, 2024
Noonan syndrome 913Jan 26, 2024
Noonan syndrome-like disorder with loose anagen hair 12Jan 26, 2024
Norman-Roberts syndrome23Jan 26, 2024
Nystagmus 1, congenital, X-linked2Jan 26, 2024
O'Donnell-Luria-Rodan syndrome12Jan 26, 2024
Obesity due to prohormone convertase I deficiency1Jan 26, 2024
Occipital pachygyria and polymicrogyria7Jan 26, 2024
Oculoauricular syndrome1Jan 26, 2024
Oculocerebrofacial syndrome, Kaufman type3Jan 26, 2024
Oculocutaneous albinism type 81Jan 26, 2024
Oculofaciocardiodental syndrome10Jan 26, 2024
Oculopharyngeal muscular dystrophy18Jan 26, 2024
Okur-Chung neurodevelopmental syndrome6Jan 26, 2024
Oligodontia-cancer predisposition syndrome7Jan 26, 2024
Oocyte maturation defect 42Jan 26, 2024
Oocyte/zygote/embryo maturation arrest 172Jan 26, 2024
Opsismodysplasia7Jan 26, 2024
Ornithine aminotransferase deficiency4Jan 26, 2024
Ornithine carbamoyltransferase deficiency22Jan 26, 2024
Orofaciodigital syndrome V1Jan 26, 2024
Orofaciodigital syndrome type 145Jan 26, 2024
Oroticaciduria1Jan 26, 2024
Orthostatic hypotension 13Jan 26, 2024
Osteogenesis imperfecta type 102Jan 26, 2024
Osteogenesis imperfecta type 122Jan 26, 2024
Osteogenesis imperfecta type 132Jan 26, 2024
Osteogenesis imperfecta type 141Jan 26, 2024
Osteogenesis imperfecta type 152Jan 26, 2024
Osteogenesis imperfecta type 162Jan 26, 2024
Osteogenesis imperfecta type 62Jan 26, 2024
Osteogenesis imperfecta type 74Jan 26, 2024
Osteogenesis imperfecta type 84Jan 26, 2024
Osteopathia striata with cranial sclerosis10Jan 26, 2024
Osteosclerotic metaphyseal dysplasia2Jan 26, 2024
Otofaciocervical syndrome 23Jan 26, 2024
Ovarian dysgenesis 22Jan 26, 2024
Oxoglutaricaciduria1Jan 26, 2024
PEHO-like syndrome2Jan 26, 2024
PGM1-congenital disorder of glycosylation5Jan 26, 2024
PHARC syndrome4Jan 26, 2024
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome16Jan 26, 2024
PLIN1-related familial partial lipodystrophy1Jan 26, 2024
PMM2-congenital disorder of glycosylation12Jan 26, 2024
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4Jan 26, 2024
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures3Jan 26, 2024
Paganini-Miozzo syndrome1Jan 26, 2024
Paget disease of bone 61Jan 26, 2024
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3Jan 26, 2024
Palmoplantar keratoderma, Nagashima type3Jan 26, 2024
Palmoplantar keratoderma, epidermolytic2Jan 26, 2024
Palmoplantar keratoderma, punctate type 1A3Jan 26, 2024
Pancreatic insufficiency-anemia-hyperostosis syndrome2Jan 26, 2024
Pancreatic triacylglycerol lipase deficiency1Jan 26, 2024
Pancytopenia due to IKZF1 mutations2Jan 26, 2024
Pancytopenia-developmental delay syndrome2Jan 26, 2024
Paragangliomas 21Jan 26, 2024
Paragangliomas 71Jan 26, 2024
Parkinson disease 22, autosomal dominant1Jan 26, 2024
Parkinsonian-pyramidal syndrome3Jan 26, 2024
Parkinsonism with polyneuropathy1Jan 26, 2024
Paroxysmal nonkinesigenic dyskinesia 15Jan 26, 2024
Patent ductus arteriosus 31Jan 26, 2024
Peeling skin syndrome 51Jan 26, 2024
Pelviscapular dysplasia1Jan 26, 2024
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development7Jan 26, 2024
Periventricular heterotopia with microcephaly, autosomal recessive6Jan 26, 2024
Periventricular nodular heterotopia 73Jan 26, 2024
Periventricular nodular heterotopia 81Jan 26, 2024
Perlman syndrome10Jan 26, 2024
Peroxisome biogenesis disorder 12A (Zellweger)4Jan 26, 2024
Perrault syndrome 21Jan 26, 2024
Persistent Mullerian duct syndrome2Jan 26, 2024
Peters plus syndrome2Jan 26, 2024
Peutz-Jeghers syndrome4Jan 26, 2024
Phelan-McDermid syndrome11Jan 26, 2024
Phenylketonuria65Jan 26, 2024
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2Jan 26, 2024
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Jan 26, 2024
Phytanic acid storage disease3Jan 26, 2024
Pigmentary retinal dystrophy4Jan 26, 2024
Pigmented nodular adrenocortical disease, primary, 26Jan 26, 2024
Pilarowski-Bjornsson syndrome16Jan 26, 2024
Pitt-Hopkins-like syndrome 217Jan 26, 2024
Pituitary hormone deficiency, combined, 11Jan 26, 2024
Pituitary hormone deficiency, combined, 24Jan 26, 2024
Platelet-type bleeding disorder 1016Jan 26, 2024
Platelet-type bleeding disorder 111Jan 26, 2024
Platelet-type bleeding disorder 151Jan 26, 2024
Platelet-type bleeding disorder 172Jan 26, 2024
Platelet-type bleeding disorder 201Jan 26, 2024
Platelet-type bleeding disorder 81Jan 26, 2024
Poirier-Bienvenu neurodevelopmental syndrome1Jan 26, 2024
Polycystic kidney disease 24Jan 26, 2024
Polycystic kidney disease 3 with or without polycystic liver disease3Jan 26, 2024
Polycystic kidney disease 475Jan 26, 2024
Polycystic kidney disease 6 with or without polycystic liver disease2Jan 26, 2024
Polycystic kidney disease, adult type12Jan 26, 2024
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 22Jan 26, 2024
Polycystic liver disease 11Jan 26, 2024
Polycystic liver disease 21Jan 26, 2024
Polyglandular autoimmune syndrome, type 110Jan 26, 2024
Polyglucosan body myopathy type 13Jan 26, 2024
Pontocerebellar hypoplasia type 101Jan 26, 2024
Pontocerebellar hypoplasia type 1B4Jan 26, 2024
Pontocerebellar hypoplasia type 2B3Jan 26, 2024
Pontocerebellar hypoplasia type 2D5Jan 26, 2024
Pontocerebellar hypoplasia type 34Jan 26, 2024
Pontocerebellar hypoplasia type 615Jan 26, 2024
Pontocerebellar hypoplasia type 73Jan 26, 2024
Pontocerebellar hypoplasia type 81Jan 26, 2024
Pontocerebellar hypoplasia, type 115Jan 26, 2024
Pontocerebellar hypoplasia, type 1C2Jan 26, 2024
Pontocerebellar hypoplasia, type 1D1Jan 26, 2024
Porencephaly 211Jan 26, 2024
Porencephaly-microcephaly-bilateral congenital cataract syndrome2Jan 26, 2024
Porokeratosis 1, Mibelli type1Jan 26, 2024
Porokeratosis 7, multiple types1Jan 26, 2024
Porphobilinogen synthase deficiency2Jan 26, 2024
Posterior column ataxia-retinitis pigmentosa syndrome3Jan 26, 2024
Posterior polymorphous corneal dystrophy 11Jan 26, 2024
Precocious puberty, central, 21Jan 26, 2024
Preimplantation embryonic lethality 11Jan 26, 2024
Preimplantation embryonic lethality 21Jan 26, 2024
Premature ovarian failure 101Jan 26, 2024
Premature ovarian failure 2B1Jan 26, 2024
Premature ovarian failure 61Jan 26, 2024
Premature ovarian failure 91Jan 26, 2024
Primary ciliary dyskinesia 104Jan 26, 2024
Primary ciliary dyskinesia 115Jan 26, 2024
Primary ciliary dyskinesia 122Jan 26, 2024
Primary ciliary dyskinesia 134Jan 26, 2024
Primary ciliary dyskinesia 149Jan 26, 2024
Primary ciliary dyskinesia 1515Jan 26, 2024
Primary ciliary dyskinesia 172Jan 26, 2024
Primary ciliary dyskinesia 182Jan 26, 2024
Primary ciliary dyskinesia 192Jan 26, 2024
Primary ciliary dyskinesia 27Jan 26, 2024
Primary ciliary dyskinesia 204Jan 26, 2024
Primary ciliary dyskinesia 222Jan 26, 2024
Primary ciliary dyskinesia 233Jan 26, 2024
Primary ciliary dyskinesia 243Jan 26, 2024
Primary ciliary dyskinesia 251Jan 26, 2024
Primary ciliary dyskinesia 261Jan 26, 2024
Primary ciliary dyskinesia 271Jan 26, 2024
Primary ciliary dyskinesia 287Jan 26, 2024
Primary ciliary dyskinesia 292Jan 26, 2024
Primary ciliary dyskinesia 340Jan 26, 2024
Primary ciliary dyskinesia 304Jan 26, 2024
Primary ciliary dyskinesia 331Jan 26, 2024
Primary ciliary dyskinesia 342Jan 26, 2024
Primary ciliary dyskinesia 352Jan 26, 2024
Primary ciliary dyskinesia 53Jan 26, 2024
Primary ciliary dyskinesia 61Jan 26, 2024
Primary ciliary dyskinesia 739Jan 26, 2024
Primary ciliary dyskinesia 94Jan 26, 2024
Primary hyperoxaluria, type I22Jan 26, 2024
Primary hyperoxaluria, type II8Jan 26, 2024
Primary hypomagnesemia3Jan 26, 2024
Primary immunodeficiency syndrome due to p14 deficiency1Jan 26, 2024
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1Jan 26, 2024
Primrose syndrome2Jan 26, 2024
Progressive encephalopathy with leukodystrophy due to DECR deficiency2Jan 26, 2024
Progressive myoclonic epilepsy type 35Jan 26, 2024
Progressive myoclonic epilepsy type 73Jan 26, 2024
Progressive myoclonic epilepsy type 81Jan 26, 2024
Progressive myositis ossificans1Jan 26, 2024
Progressive pseudorheumatoid dysplasia2Jan 26, 2024
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Jan 26, 2024
Prolidase deficiency3Jan 26, 2024
Proliferative vitreoretinopathy1Jan 26, 2024
Proline dehydrogenase deficiency9Jan 26, 2024
Propionic acidemia42Jan 26, 2024
Prostate cancer, hereditary, 12Jan 26, 2024
Proteasome-associated autoinflammatory syndrome 13Jan 26, 2024
Proteasome-associated autoinflammatory syndrome 31Jan 26, 2024
Proteasome-associated autoinflammatory syndrome 41Jan 26, 2024
Proteasome-associated autoinflammatory syndrome 52Jan 26, 2024
Protoporphyria, erythropoietic, 12Jan 26, 2024
Proximal myopathy with extrapyramidal signs2Jan 26, 2024
Pseudo-TORCH syndrome 17Jan 26, 2024
Pseudo-TORCH syndrome 21Jan 26, 2024
Pseudohypoaldosteronism type 2B3Jan 26, 2024
Pseudohypoaldosteronism type 2D2Jan 26, 2024
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Jan 26, 2024
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency2Jan 26, 2024
Ptosis, hereditary congenital, 11Jan 26, 2024
Pulmonary hypertension, primary, 22Jan 26, 2024
Purine-nucleoside phosphorylase deficiency2Jan 26, 2024
Pyknodysostosis1Jan 26, 2024
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2Jan 26, 2024
Pyogenic bacterial infections due to MyD88 deficiency1Jan 26, 2024
Pyridoxal phosphate-responsive seizures4Jan 26, 2024
Pyridoxine-dependent epilepsy25Jan 26, 2024
Pyruvate carboxylase deficiency12Jan 26, 2024
Pyruvate dehydrogenase E1-alpha deficiency14Jan 26, 2024
Pyruvate dehydrogenase E1-beta deficiency1Jan 26, 2024
Pyruvate dehydrogenase E2 deficiency4Jan 26, 2024
Pyruvate dehydrogenase E3 deficiency9Jan 26, 2024
Pyruvate dehydrogenase E3-binding protein deficiency9Jan 26, 2024
Pyruvate dehydrogenase phosphatase deficiency1Jan 26, 2024
Quebec platelet disorder2Jan 26, 2024
RAB23-related Carpenter syndrome2Jan 26, 2024
RECON progeroid syndrome3Jan 26, 2024
RFT1-congenital disorder of glycosylation4Jan 26, 2024
RIDDLE syndrome1Jan 26, 2024
RIN2 syndrome4Jan 26, 2024
Radio-Tartaglia syndrome14Jan 26, 2024
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22Jan 26, 2024
Rafiq syndrome3Jan 26, 2024
Rahman syndrome1Jan 26, 2024
Rauch-Steindl syndrome2Jan 26, 2024
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Jan 26, 2024
Renal carnitine transport defect31Jan 26, 2024
Renal hypodysplasia/aplasia 13Jan 26, 2024
Renal hypomagnesemia 21Jan 26, 2024
Renal tubular acidosis with progressive nerve deafness9Jan 26, 2024
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss6Jan 26, 2024
Renpenning syndrome3Jan 26, 2024
Reticular dysgenesis1Jan 26, 2024
Reticulate acropigmentation of Kitamura2Jan 26, 2024
Retinal cone dystrophy 43Jan 26, 2024
Retinal dystrophy with leukodystrophy2Jan 26, 2024
Retinitis pigmentosa 111Jan 26, 2024
Retinitis pigmentosa 132Jan 26, 2024
Retinitis pigmentosa 21Jan 26, 2024
Retinitis pigmentosa 2536Jul 29, 2024
Retinitis pigmentosa 266Jan 26, 2024
Retinitis pigmentosa 271Jan 26, 2024
Retinitis pigmentosa 287Jan 26, 2024
Retinitis pigmentosa 332Jan 26, 2024
Retinitis pigmentosa 433Jan 26, 2024
Retinitis pigmentosa 454Jan 26, 2024
Retinitis pigmentosa 493Jan 26, 2024
Retinitis pigmentosa 622Jan 26, 2024
Retinitis pigmentosa 664Jan 26, 2024
Retinitis pigmentosa 691Jan 26, 2024
Retinitis pigmentosa 71Jan 26, 2024
Retinitis pigmentosa 751Jan 26, 2024
Retinitis pigmentosa 781Jan 26, 2024
Retinitis pigmentosa 841Jan 26, 2024
Retinoblastoma3Jan 26, 2024
Rett syndrome, congenital variant6Jan 26, 2024
Rhizomelic chondrodysplasia punctata type 22Jan 26, 2024
Ritscher-Schinzel syndrome 211Jan 26, 2024
Ritscher-Schinzel syndrome 41Jan 26, 2024
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Jan 26, 2024
Rothmund-Thomson syndrome type 12Jan 26, 2024
Rotor syndrome32Jan 26, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations1Jul 29, 2024
SCOTT SYNDROME3Jan 26, 2024
SIN3A-related intellectual disability syndrome due to a point mutation11Jan 26, 2024
SLC35A2-congenital disorder of glycosylation1Jan 26, 2024
SLC39A8-CDG4Jan 26, 2024
SSR4-congenital disorder of glycosylation1Jan 26, 2024
STING-associated vasculopathy with onset in infancy2Jan 26, 2024
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome1Jan 26, 2024
Sandestig-stefanova syndrome2Jan 26, 2024
Sandhoff disease10Jan 26, 2024
Sarcosine dehydrogenase deficiency1Jan 26, 2024
Scalp-ear-nipple syndrome1Jan 26, 2024
Schaaf-Yang syndrome36Jan 26, 2024
Schimke immuno-osseous dysplasia5Jan 26, 2024
Schneckenbecken dysplasia1Jan 26, 2024
Schuurs-Hoeijmakers syndrome9Jan 26, 2024
Seckel syndrome 101Jan 26, 2024
Seckel syndrome 72Jan 26, 2024
Seckel syndrome 92Jan 26, 2024
Seizures, benign familial neonatal, 28Jan 26, 2024
Seizures, early-onset, with neurodegeneration and brain calcifications2Jan 26, 2024
Senior-Loken syndrome 52Jan 26, 2024
Senior-Loken syndrome 92Jan 26, 2024
Septo-optic dysplasia sequence4Jan 26, 2024
Sessile serrated polyposis cancer syndrome1Jan 26, 2024
Severe combined immunodeficiency due to CARMIL2 deficiency4Jan 26, 2024
Severe combined immunodeficiency due to CORO1A deficiency2Jan 26, 2024
Severe combined immunodeficiency due to DNA-PKcs deficiency5Jan 26, 2024
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency13Jan 26, 2024
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome35Jan 26, 2024
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome3Jan 26, 2024
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome1Jan 26, 2024
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome7Jan 26, 2024
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1Jan 26, 2024
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome2Jan 26, 2024
Shashi-Pena syndrome11Jan 26, 2024
Short stature due to growth hormone secretagogue receptor deficiency3Jan 26, 2024
Short stature due to primary acid-labile subunit deficiency2Jan 26, 2024
Short stature, Dauber-Argente type1Jan 26, 2024
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis1Jan 26, 2024
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3Jan 26, 2024
Short stature-brachydactyly-obesity-global developmental delay syndrome4Jan 26, 2024
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Jan 26, 2024
Short stature-pituitary and cerebellar defects-small sella turcica syndrome5Jan 26, 2024
Short-rib thoracic dysplasia 11 with or without polydactyly5Jan 26, 2024
Short-rib thoracic dysplasia 15 with polydactyly2Jan 26, 2024
Short-rib thoracic dysplasia 17 with or without polydactyly1Jan 26, 2024
Short-rib thoracic dysplasia 19 with or without polydactyly3Jan 26, 2024
Short-rib thoracic dysplasia 6 with or without polydactyly6Jan 26, 2024
Short-rib thoracic dysplasia 8 with or without polydactyly3Jan 26, 2024
Shprintzen-Goldberg syndrome9Jan 26, 2024
Shukla-Vernon syndrome11Jan 26, 2024
Shwachman-Diamond syndrome 14Jan 26, 2024
Sialidosis type 23Jan 26, 2024
Sifrim-Hitz-Weiss syndrome7Jan 26, 2024
Simpson-Golabi-Behmel syndrome type 14Jan 26, 2024
Singleton-Merten syndrome 21Jan 26, 2024
Sitosterolemia 153Jan 26, 2024
Sitosterolemia 245Jan 26, 2024
Sjögren-Larsson syndrome5Jan 26, 2024
Skraban-Deardorff syndrome2Jan 26, 2024
Smith-Lemli-Opitz syndrome19Jan 26, 2024
Smith-Magenis syndrome9Jan 26, 2024
Smith-McCort dysplasia 22Jan 26, 2024
Snijders Blok-Campeau syndrome14Jan 26, 2024
Snijders blok-fisher syndrome5Jan 26, 2024
Somatotroph adenoma1Jan 26, 2024
Sotos syndrome20Jan 26, 2024
Spastic ataxia 21Jan 26, 2024
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy3Jan 26, 2024
Spastic paraplegia 52, autosomal recessive2Jan 26, 2024
Spastic paraplegia 80, autosomal dominant4Jan 26, 2024
Spastic paraplegia 82, autosomal recessive1Jan 26, 2024
Spastic paraplegia-severe developmental delay-epilepsy syndrome4Jan 26, 2024
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome5Jan 26, 2024
Specific granule deficiency 21Jan 26, 2024
Spermatogenic failure 111Jan 26, 2024
Spermatogenic failure 141Jan 26, 2024
Spermatogenic failure 161Jan 26, 2024
Spermatogenic failure 171Jan 26, 2024
Spermatogenic failure 251Jan 26, 2024
Spermatogenic failure 312Jan 26, 2024
Spermatogenic failure 41Jan 26, 2024
Spermatogenic failure 467Jan 26, 2024
Spermatogenic failure 482Jan 26, 2024
Spermatogenic failure 492Jan 26, 2024
Spermatogenic failure 653Jan 26, 2024
Spermatogenic failure 91Jan 26, 2024
Spermatogenic failure, X-linked, 31Jan 26, 2024
Spermatogenic failure, Y-linked, 22Jan 26, 2024
Spinocerebellar ataxia 455Jan 26, 2024
Spinocerebellar ataxia 471Jan 26, 2024
Spinocerebellar ataxia type 11Jan 26, 2024
Spinocerebellar ataxia type 112Jan 26, 2024
Spinocerebellar ataxia type 136Jan 26, 2024
Spinocerebellar ataxia type 21Jan 26, 2024
Spinocerebellar ataxia type 213Jan 26, 2024
Spinocerebellar ataxia type 231Jan 26, 2024
Spinocerebellar ataxia type 261Jan 26, 2024
Spinocerebellar ataxia type 356Jan 26, 2024
Spinocerebellar ataxia type 373Jan 26, 2024
Spinocerebellar ataxia type 382Jan 26, 2024
Spinocerebellar ataxia type 411Jan 26, 2024
Spinocerebellar ataxia, autosomal recessive 232Jan 26, 2024
Spinocerebellar ataxia, autosomal recessive 262Jan 26, 2024
Spinocerebellar ataxia, autosomal recessive 281Jan 26, 2024
Sponastrime dysplasia3Jan 26, 2024
Spondylocostal dysostosis 1, autosomal recessive5Jan 26, 2024
Spondylocostal dysostosis 2, autosomal recessive1Jan 26, 2024
Spondylocostal dysostosis 3, autosomal recessive1Jan 26, 2024
Spondylocostal dysostosis 53Jan 26, 2024
Spondylocostal dysostosis 6, autosomal recessive1Jan 26, 2024
Spondyloenchondrodysplasia with immune dysregulation3Jan 26, 2024
Spondyloepimetaphyseal dysplasia with joint laxity, type 31Jan 26, 2024
Spondyloepimetaphyseal dysplasia with multiple dislocations4Jan 26, 2024
Spondyloepimetaphyseal dysplasia, Genevieve type1Jan 26, 2024
Spondyloepiphyseal dysplasia tarda, X-linked1Jan 26, 2024
Spongy degeneration of central nervous system7Jan 26, 2024
Stankiewicz-Isidor syndrome3Jan 26, 2024
Steel syndrome7Jan 26, 2024
Steinert myotonic dystrophy syndrome7Jan 26, 2024
Striatonigral degeneration, childhood-onset2Jan 26, 2024
Stromme syndrome4Jan 26, 2024
Structural heart defects and renal anomalies syndrome4Jan 26, 2024
Stüve-Wiedemann syndrome 16Jan 26, 2024
Subcutaneous panniculitis-like T-cell lymphoma2Jan 26, 2024
Succinate-semialdehyde dehydrogenase deficiency11Jan 26, 2024
Succinyl-CoA acetoacetate transferase deficiency9Jan 26, 2024
Sucrase-isomaltase deficiency9Jan 26, 2024
Suleiman-El-Hattab syndrome1Jan 26, 2024
Sulfite oxidase deficiency3Jan 26, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5Jan 26, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2Jan 26, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C2Jan 26, 2024
Surfactant metabolism dysfunction, pulmonary, 13Jan 26, 2024
Surfactant metabolism dysfunction, pulmonary, 24Jan 26, 2024
Surfactant metabolism dysfunction, pulmonary, 52Jan 26, 2024
Syndromic X-linked intellectual disability 146Jan 26, 2024
Syndromic X-linked intellectual disability 943Jan 26, 2024
Syndromic X-linked intellectual disability Claes-Jensen type8Jan 26, 2024
Syndromic X-linked intellectual disability Raymond type3Jan 26, 2024
Syndromic X-linked intellectual disability Shashi type1Jan 26, 2024
Syndromic X-linked intellectual disability Siderius type3Jan 26, 2024
Syndromic X-linked intellectual disability Snyder type4Jan 26, 2024
Syndromic multisystem autoimmune disease due to ITCH deficiency3Jan 26, 2024
Synpolydactyly type 21Jan 26, 2024
T-B+ severe combined immunodeficiency due to JAK3 deficiency6Jan 26, 2024
TARP syndrome3Jan 26, 2024
TELO2-related intellectual disability-neurodevelopmental disorder3Jan 26, 2024
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome3Jan 26, 2024
TMEM165-congenital disorder of glycosylation1Jan 26, 2024
TNF receptor-associated periodic fever syndrome (TRAPS)2Jan 26, 2024
Tay-Sachs disease18Jan 26, 2024
Tay-Sachs disease, variant AB1Jan 26, 2024
Telangiectasia, hereditary hemorrhagic, type 12Jan 26, 2024
Telangiectasia, hereditary hemorrhagic, type 25Jan 26, 2024
Telangiectasia, hereditary hemorrhagic, type 53Jan 26, 2024
Temtamy preaxial brachydactyly syndrome2Jan 26, 2024
Temtamy syndrome1Jan 26, 2024
Tenorio syndrome1Jan 26, 2024
Tessadori-van Haaften neurodevelopmental syndrome 11Jan 26, 2024
Testosterone 17-beta-dehydrogenase deficiency7Jan 26, 2024
Thrombocythemia 32Jan 26, 2024
Thrombocytopenia 31Jan 26, 2024
Thrombocytopenia 52Jan 26, 2024
Thrombomodulin-related bleeding disorder2Jan 26, 2024
Thyroid dyshormonogenesis 11Jan 26, 2024
Thyroid dyshormonogenesis 629Jan 26, 2024
Thyroid hormone metabolism, abnormal 12Jan 26, 2024
Thyroxine-binding globulin quantitative trait locus1Jan 26, 2024
Tolchin-Le Caignec syndrome3Jan 26, 2024
Tooth agenesis, selective, 73Jan 26, 2024
Townes-Brocks syndrome 17Jan 26, 2024
Transcobalamin II deficiency3Jan 26, 2024
Transketolase deficiency1Jan 26, 2024
Treacher Collins syndrome 16Jan 26, 2024
Tremor, hereditary essential, 58Jan 26, 2024
Trichohepatoenteric syndrome 19Jan 26, 2024
Trichohepatoenteric syndrome 22Jan 26, 2024
Trichothiodystrophy 4, nonphotosensitive1Jan 26, 2024
Triglyceride storage disease with ichthyosis2Jan 26, 2024
Trimethylaminuria2Jan 26, 2024
Triosephosphate isomerase deficiency12Jan 26, 2024
Troyer syndrome4Jan 26, 2024
Tuberous sclerosis 251Jan 26, 2024
Turnpenny-fry syndrome1Jan 26, 2024
Type II complement component 8 deficiency3Jan 26, 2024
Tyrosinase-positive oculocutaneous albinism1Oct 15, 2024
Tyrosinemia type I8Jan 26, 2024
Tyrosinemia type II2Jan 26, 2024
UDPglucose-4-epimerase deficiency2Jan 26, 2024
Ulnar-mammary syndrome3Jan 26, 2024
Unverricht-Lundborg syndrome4Jan 26, 2024
Upshaw-Schulman syndrome9Jan 26, 2024
Urofacial syndrome type 12Jan 26, 2024
Usher syndrome type 1G1Jan 26, 2024
Van den Ende-Gupta syndrome1Jan 26, 2024
Van der Woude syndrome 21Jan 26, 2024
Vertebral anomalies and variable endocrine and T-cell dysfunction1Jan 26, 2024
Vertebral, cardiac, renal, and limb defects syndrome 35Jan 26, 2024
Ververi-Brady syndrome4Jan 26, 2024
Very long chain acyl-CoA dehydrogenase deficiency54Jan 26, 2024
Vesicoureteral reflux 21Jan 26, 2024
Vesicoureteral reflux 838Jan 26, 2024
Vici syndrome20Jan 26, 2024
Vitamin D hydroxylation-deficient rickets, type 1B1Jan 26, 2024
Vitamin D-dependent rickets type II with alopecia3Jan 26, 2024
Vitamin D-dependent rickets, type 1A6Jan 26, 2024
Waardenburg syndrome type 4B2Jan 26, 2024
Wagner syndrome3Jan 26, 2024
Warburg micro syndrome 32Jan 26, 2024
Warburg micro syndrome 41Jan 26, 2024
Warsaw breakage syndrome2Jan 26, 2024
Weaver syndrome6Jan 26, 2024
Weill-Marchesani 4 syndrome, recessive1Jan 26, 2024
Weill-Marchesani syndrome 12Jan 26, 2024
Weiss-Kruszka syndrome2Jan 26, 2024
Werner syndrome18Jan 26, 2024
Wiedemann-Steiner syndrome14Jan 26, 2024
Wilson disease63Jan 26, 2024
Wilson-Turner syndrome5Jan 26, 2024
Wiskott-Aldrich syndrome 21Jan 26, 2024
Wolcott-Rallison dysplasia1Jan 26, 2024
Woodhouse-Sakati syndrome2Jan 26, 2024
X-linked Alport syndrome15Jan 26, 2024
X-linked Opitz G/BBB syndrome2Jan 26, 2024
X-linked central congenital hypothyroidism with late-onset testicular enlargement3Jan 26, 2024
X-linked chondrodysplasia punctata 14Jan 26, 2024
X-linked congenital hemolytic anemia18Jan 26, 2024
X-linked ichthyosis with steryl-sulfatase deficiency1Jan 26, 2024
X-linked intellectual disability Cabezas type3Jan 26, 2024
X-linked intellectual disability, Cantagrel type13Jan 26, 2024
X-linked intellectual disability-cerebellar hypoplasia syndrome10Jan 26, 2024
X-linked intellectual disability-short stature-overweight syndrome5Jan 26, 2024
X-linked lymphoproliferative disease due to XIAP deficiency1Jan 26, 2024
X-linked myopathy with excessive autophagy1Jan 26, 2024
X-linked sideroblastic anemia with ataxia1Jan 26, 2024
Xanthinuria type II3Jan 26, 2024
Xeroderma pigmentosum group A5Jan 26, 2024
Xeroderma pigmentosum variant type3Jan 26, 2024
Xeroderma pigmentosum, group C6Jan 26, 2024
ZTTK syndrome38Jan 26, 2024
Zimmermann-laband syndrome 31Jan 26, 2024
alpha, alpha-Trehalase deficiency1Jan 26, 2024
not provided23716Jan 26, 2024

Testing in GTR

Disease nameNumber of tests
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Autoinflammatory Autoimmune1 test
Biotinidase deficiency1 test
COVID-192 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Citrullinemia type I1 test
Congenital hyperammonemia, type I1 test
Congenital hypothyroidism1 test
Cystic fibrosis1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Fabry disease1 test
Familial pulmonary capillary hemangiomatosis1 test
G6PD deficiency1 test
GTP cyclohydrolase I deficiency1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gaucher disease1 test
Glutaric aciduria, type 11 test
Glycogen storage disease, type II1 test
Hb SS disease1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary disease466 tests
Holocarboxylase synthetase deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Maple syrup urine disease1 test
Maple syrup urine disease type 1A1 test
Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Methylcrotonyl-CoA carboxylase deficiency1 test
Mitochondrial trifunctional protein deficiency2 tests
Mucopolysaccharidosis1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Ornithine aminotransferase deficiency1 test
Phenylketonuria1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
Propionic acidemia2 tests
Severe combined immunodeficiency disease1 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
beta Thalassemia1 test