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Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 53310

Gene

GeneSubmissionsLast Updated
A2ML1248Feb 19, 2024
A2ML1-AS132Nov 14, 2023
AAAS14Jul 9, 2024
AARS110Aug 8, 2024
AARS26Feb 19, 2024
AASS3Feb 19, 2024
ABAT2Nov 14, 2023
ABCA1137Aug 8, 2024
ABCA1223Aug 8, 2024
ABCA22Jul 29, 2022
ABCA330Aug 8, 2024
ABCA465Aug 8, 2024
ABCA76Jan 26, 2024
ABCB1145Aug 8, 2024
ABCB441Aug 8, 2024
ABCB73Apr 3, 2024
ABCC25Aug 8, 2024
ABCC64Jul 9, 2024
ABCC8171Aug 8, 2024
ABCC980Apr 3, 2024
ABCD156Aug 8, 2024
ABCD418Jun 29, 2024
ABCG546Aug 8, 2024
ABCG877Jul 9, 2024
ABHD121Feb 19, 2024
ABHD14A-ACY13Jul 9, 2024
ABRAXAS189Aug 8, 2024
ACACA4Jul 9, 2024
ACAD82Dec 26, 2023
ACAD934Aug 8, 2024
ACADM86Aug 8, 2024
ACADS18Aug 8, 2024
ACADSB12Jul 9, 2024
ACADVL93Aug 8, 2024
ACAN26Aug 8, 2024
ACAT131Jun 29, 2024
ACAT21Nov 14, 2023
ACBD62Jun 29, 2024
ACD3Jun 29, 2024
ACE1Nov 10, 2022
ACER32Mar 6, 2020
ACO22Apr 3, 2024
ACOX17Jun 29, 2024
ACOX22Aug 8, 2024
ACP52Aug 8, 2024
ACSF334Aug 8, 2024
ACSL46Nov 14, 2023
ACSM31Dec 26, 2023
ACTA12Jul 9, 2024
ACTA218Jun 29, 2024
ACTA2-AS14Oct 2, 2023
ACTB4Aug 8, 2024
ACTC136Jun 29, 2024
ACTG15Jun 29, 2024
ACTL6B2Jun 29, 2024
ACTN13Oct 2, 2023
ACTN270Feb 19, 2024
ACVR11Jan 26, 2024
ACVRL17Aug 8, 2024
ACY13Jul 9, 2024
ACYP12Aug 30, 2022
ADA40Aug 8, 2024
ADA25Aug 8, 2024
ADAMTS1327Aug 8, 2024
ADAMTS192Jun 29, 2024
ADAMTS243Aug 8, 2024
ADAMTSL22Jan 26, 2024
ADAR1Aug 25, 2023
ADAT32Dec 31, 2020
ADCY11Jan 26, 2024
ADCY55Jul 9, 2024
ADD31Oct 27, 2023
ADGRG13Aug 8, 2024
ADGRG62Jun 29, 2024
ADGRL15Jul 9, 2024
ADGRL1-AS15Jul 9, 2024
ADGRV184Aug 8, 2024
ADNP10Aug 8, 2024
ADNP-AS11May 17, 2023
ADRA2B1Mar 6, 2020
ADSL7Aug 8, 2024
ADSS12Jul 9, 2024
AEBP11Jun 29, 2024
AFF26Jul 9, 2024
AFF32Apr 3, 2024
AFF43Jul 9, 2024
AFG2A7Jun 29, 2024
AFG3L220Aug 8, 2024
AGA16Jul 9, 2024
AGA-DT1Jan 25, 2018
AGBL51Jan 11, 2023
AGK1Jan 26, 2024
AGL61Jul 9, 2024
AGO12Aug 8, 2024
AGO23Aug 8, 2024
AGPAT27Jul 9, 2024
AGPS9Aug 8, 2024
AGRN4Jun 29, 2024
AGXT61Aug 8, 2024
AHCY1Jul 25, 2023
AHDC18Aug 8, 2024
AHI129Aug 21, 2024
AICDA7Jul 9, 2024
AIFM14Aug 8, 2024
AIMP13Dec 26, 2023
AIPL117Jul 9, 2024
AIRE50Jul 9, 2024
AK29Sep 14, 2022
AKAP9120Aug 8, 2024
AKR1D12Jun 29, 2024
AKT12Aug 8, 2024
AKT33Nov 10, 2022
ALAS21Jan 26, 2024
ALB1Nov 14, 2023
ALDH18A14Jul 9, 2024
ALDH3A239Aug 8, 2024
ALDH4A16Jun 29, 2024
ALDH5A18Apr 3, 2024
ALDH7A132Aug 8, 2024
ALDOB29Jul 9, 2024
ALG122Jul 9, 2024
ALG112Aug 8, 2024
ALG127Jun 29, 2024
ALG133Jun 29, 2024
ALG141May 17, 2023
ALG24Jul 25, 2023
ALG35Aug 8, 2024
ALG612Jul 9, 2024
ALK43Feb 19, 2024
ALMS1302Aug 8, 2024
ALOX12B17Jun 29, 2024
ALOXE310Jan 26, 2024
ALPK12Oct 2, 2023
ALPK356Jun 29, 2024
ALPL115Aug 8, 2024
ALS24Dec 26, 2023
ALX12Apr 3, 2024
ALX43Jul 9, 2024
AMACR1Oct 2, 2023
AMER14Jul 9, 2024
AMH3Aug 25, 2023
AMHR21Oct 2, 2023
AMPD18Aug 8, 2024
AMPD26Jul 9, 2024
AMT29Aug 8, 2024
ANG1Sep 14, 2022
ANGPT21Mar 11, 2022
ANK11Jun 21, 2023
ANK2145Aug 8, 2024
ANK34Dec 26, 2023
ANKH2Jul 9, 2024
ANKRD130Jun 29, 2024
ANKRD1123Aug 8, 2024
ANKRD175Jul 9, 2024
ANKRD268Jul 9, 2024
ANO109Aug 8, 2024
ANO32Jun 21, 2023
ANO521Aug 8, 2024
ANO614Jun 29, 2024
ANOS13Aug 8, 2024
ANTXR211Oct 2, 2023
AOPEP54Aug 8, 2024
AP1G14Jul 9, 2024
AP1S11Jan 26, 2024
AP1S22Jul 9, 2024
AP2M11Aug 8, 2024
AP3B121Aug 8, 2024
AP3B24Apr 3, 2024
AP3D15Oct 2, 2023
AP4B14Jul 25, 2023
AP4B1-AS12Jul 25, 2023
AP4E12Oct 13, 2022
AP4M14Dec 26, 2023
AP5Z15Jun 29, 2024
APBB12Sep 24, 2019
APC663Aug 8, 2024
APC29Jul 9, 2024
APIP1Dec 21, 2021
APOA118Apr 3, 2024
APOA1-AS12Apr 3, 2024
APOA214Oct 2, 2023
APOA522Jun 29, 2024
APOB44Aug 8, 2024
APOC39Oct 2, 2023
APOL11Jul 9, 2024
APOL41Aug 8, 2024
APP22Aug 8, 2024
APP-DT1Nov 14, 2023
APPL18Aug 8, 2024
APTX1Nov 14, 2023
AQP28Nov 14, 2023
AQP5-AS16Nov 14, 2023
AR13Aug 8, 2024
ARCN16Jul 9, 2024
ARF11Nov 14, 2023
ARFGEF18Apr 3, 2024
ARFGEF1-DT2Dec 26, 2023
ARG110Aug 8, 2024
ARHGAP3112Jul 9, 2024
ARHGAP91Feb 19, 2024
ARHGEF104Apr 3, 2024
ARHGEF151Aug 8, 2024
ARHGEF94Aug 8, 2024
ARID1A8Aug 8, 2024
ARID1B12Aug 8, 2024
ARID25Jun 29, 2024
ARID5A2Oct 27, 2023
ARL13B12Oct 2, 2023
ARL67Aug 8, 2024
ARMC52Dec 26, 2023
ARMC92Apr 3, 2024
ARSA79Aug 8, 2024
ARSB52Aug 8, 2024
ARSL5Jun 29, 2024
ARX12Jul 9, 2024
ASAH16Aug 8, 2024
ASB111Sep 9, 2020
ASB141Aug 8, 2024
ASCC11Jun 29, 2024
ASCC31Jun 29, 2024
ASH1L13Jul 9, 2024
ASIC4-AS14Jul 9, 2024
ASL53Jul 9, 2024
ASNS19Aug 8, 2024
ASPA45Aug 8, 2024
ASPH1Dec 21, 2021
ASPM12Apr 3, 2024
ASS172Aug 8, 2024
ASTN27May 17, 2023
ASXL115Aug 8, 2024
ASXL27Jul 9, 2024
ASXL37Jul 9, 2024
ATAD3A3Apr 3, 2024
ATIC1Feb 6, 2023
ATL12Jul 25, 2023
ATL34Jun 29, 2024
ATM1056Aug 21, 2024
ATN12Jul 25, 2023
ATP11A1Nov 14, 2023
ATP13A220Aug 8, 2024
ATP1A11Aug 30, 2022
ATP1A214Jul 9, 2024
ATP1A311Aug 8, 2024
ATP1B112Oct 2, 2023
ATP2A13Nov 14, 2023
ATP2A22Jul 9, 2024
ATP2B16Jul 9, 2024
ATP2B33Jun 29, 2024
ATP5F1B1Apr 3, 2024
ATP5MK1Oct 6, 2020
ATP6AP12Jul 9, 2024
ATP6AP25Aug 8, 2024
ATP6V0A11Apr 3, 2024
ATP6V0A213Jul 9, 2024
ATP6V0A414Feb 19, 2024
ATP6V1A2Jul 15, 2022
ATP6V1B114Jul 9, 2024
ATP6V1B1-AS11Apr 19, 2022
ATP6V1B21Nov 14, 2023
ATP6V1E13Jun 29, 2024
ATP7A16Apr 3, 2024
ATP7B339Aug 8, 2024
ATP8A25Jul 9, 2024
ATP8B135Aug 8, 2024
ATP8B1-AS16Aug 8, 2024
ATR15Aug 8, 2024
ATRIP18Aug 8, 2024
ATRIP-TREX118Aug 8, 2024
ATRX27Jun 29, 2024
ATXN71Jan 26, 2024
ATXN7L3-AS15Apr 3, 2024
AUH2Jan 26, 2024
AUTS210Aug 8, 2024
AVEN1Nov 14, 2023
AVIL1Dec 31, 2020
AVPR225Aug 8, 2024
AXDND114Aug 25, 2023
AXIN258Jul 9, 2024
AXL3Aug 8, 2024
B3GALNT23Jul 9, 2024
B3GAT31Jun 29, 2024
B3GLCT2Jul 15, 2022
B4GALNT11Jul 25, 2023
B4GALT12Jul 25, 2023
B4GALT71Dec 26, 2023
B9D17Jul 9, 2024
B9D28Jul 9, 2024
BAAT1Feb 19, 2024
BACH21Jan 26, 2024
BAG354Jun 29, 2024
BARD1226Aug 8, 2024
BBS132Jan 26, 2024
BBS1038Aug 8, 2024
BBS1214Jan 26, 2024
BBS237Aug 8, 2024
BBS414Jan 26, 2024
BBS59Jan 26, 2024
BBS76Feb 19, 2024
BBS910Apr 3, 2024
BCAP311Apr 3, 2024
BCHE29Aug 8, 2024
BCKDHA29Aug 8, 2024
BCKDHB46Aug 8, 2024
BCL11A6Aug 8, 2024
BCL11B4Aug 8, 2024
BCL2L2-PABPN11Dec 14, 2022
BCOR3Apr 3, 2024
BCORL17Dec 26, 2023
BCS1L21Aug 8, 2024
BEST11May 17, 2023
BGN23Jul 9, 2024
BICD24Jun 29, 2024
BICRA7Jul 9, 2024
BIVM-ERCC527Jun 29, 2024
BLK6Oct 2, 2023
BLM104Aug 8, 2024
BLOC1S1-RDH51Oct 27, 2023
BLOC1S33Jul 9, 2024
BLOC1S64Dec 26, 2023
BLTP14Feb 19, 2024
BMP115Aug 8, 2024
BMP41Sep 14, 2022
BMPER3Dec 26, 2023
BMPR1A85Aug 8, 2024
BNAT11Nov 14, 2023
BOLA31Aug 25, 2023
BPTF5Jun 29, 2024
BRAF123Jun 29, 2024
BRAT13Feb 19, 2024
BRCA11561Aug 8, 2024
BRCA22673Aug 8, 2024
BRD43Jul 9, 2024
BRIP1298Aug 8, 2024
BRPF17Aug 8, 2024
BRSK21Jan 26, 2024
BRWD32Jun 21, 2023
BSCL24Aug 21, 2024
BSND13Jan 26, 2024
BTD66Aug 8, 2024
BTK46Aug 8, 2024
BUB1B3Aug 8, 2024
BUB1B-PAK61Jan 11, 2023
BVES1Nov 10, 2022
C10orf1056Jan 26, 2024
C10orf553Aug 8, 2024
C11orf65390Aug 8, 2024
C12orf435Aug 8, 2024
C12orf571Oct 13, 2022
C16orf891Feb 19, 2024
C17orf10715Jul 9, 2024
C19orf1212Jan 26, 2024
C1QTNF3-AMACR1Oct 2, 2023
C1R4Dec 26, 2023
C1S2Aug 8, 2024
C22Jan 26, 2024
C2CD37Aug 8, 2024
C314Aug 8, 2024
C56Aug 8, 2024
C8B1Apr 3, 2024
CA21Jan 26, 2024
CA5A3Aug 8, 2024
CABP41Jun 29, 2024
CACNA1A52Aug 8, 2024
CACNA1B7Jun 29, 2024
CACNA1C98Aug 8, 2024
CACNA1C-AS139Aug 8, 2024
CACNA1C-AS22Apr 7, 2021
CACNA1D22Aug 8, 2024
CACNA1E8Jun 29, 2024
CACNA1G21Aug 8, 2024
CACNA1H26Aug 8, 2024
CACNA1I2Aug 8, 2024
CACNA1S33Aug 8, 2024
CACNA2D25Jul 9, 2024
CACNB230Jul 9, 2024
CACNB43Aug 8, 2024
CACNG22Aug 8, 2024
CACNG2-DT1Dec 26, 2023
CAD22Aug 8, 2024
CALCR1Jul 7, 2021
CALM11Aug 25, 2023
CALM22Nov 14, 2023
CALM36Jul 9, 2024
CALR317Jun 29, 2024
CAMK2A6Aug 8, 2024
CAMK2B5Jun 29, 2024
CAMK2G2Aug 8, 2024
CAMK41Jul 1, 2020
CAMTA19Aug 8, 2024
CANT13Aug 8, 2024
CAPN12Jan 26, 2024
CAPN383Aug 8, 2024
CAPRIN11Dec 26, 2023
CARD111Mar 16, 2023
CARD141Jan 25, 2018
CARS11Oct 27, 2023
CARS29Jul 9, 2024
CASD14Aug 8, 2024
CASK6Jul 9, 2024
CASP101Aug 8, 2024
CASP147Apr 14, 2023
CASQ15Aug 8, 2024
CASQ222Jan 26, 2024
CASR137Aug 8, 2024
CAT1Dec 26, 2023
CATIP-AS27Jul 9, 2024
CAV330Jul 9, 2024
CAVIN11Feb 19, 2024
CBL119Aug 8, 2024
CBS124Aug 8, 2024
CC2D1A8Dec 26, 2023
CC2D2A26Aug 8, 2024
CCBE13Apr 3, 2024
CCDC1031Jun 29, 2024
CCDC1071Mar 6, 2020
CCDC1411Apr 3, 2024
CCDC223Aug 8, 2024
CCDC391Jun 29, 2024
CCDC401Jan 25, 2018
CCDC501Jul 9, 2024
CCDC781May 17, 2023
CCDC815Jun 29, 2024
CCDC88C15Aug 8, 2024
CCDST5Aug 8, 2024
CCM25Apr 3, 2024
CCN612Jun 29, 2024
CCND11Oct 2, 2023
CCPG11Nov 14, 2023
CD1643Aug 8, 2024
CD2473Aug 8, 2024
CD271Aug 8, 2024
CD27-AS11Aug 8, 2024
CD3612Aug 8, 2024
CD3D4Apr 3, 2024
CD3E11Jul 9, 2024
CD3G7Feb 6, 2023
CD409Nov 10, 2022
CD40LG11Jun 28, 2024
CD468Jul 9, 2024
CD591Jul 9, 2024
CD8A2Jul 15, 2022
CD962Jun 29, 2024
CDAN15Aug 8, 2024
CDC14A2Jul 9, 2024
CDC421Jan 11, 2023
CDC42BPB7Aug 8, 2024
CDC7310Jan 26, 2024
CDCA72Nov 10, 2022
CDH1262Aug 8, 2024
CDH21Nov 10, 2022
CDH2398Aug 8, 2024
CDH23-AS12Dec 26, 2023
CDHR31Apr 14, 2023
CDK101Apr 3, 2024
CDK1315Aug 8, 2024
CDK191Oct 27, 2023
CDK201Jul 9, 2024
CDK453Jul 9, 2024
CDK5RAP11Mar 6, 2020
CDK5RAP27Apr 3, 2024
CDKL517Aug 8, 2024
CDKN1C2Jun 29, 2024
CDKN2A73Jun 29, 2024
CDKN2A-AS12Mar 16, 2023
CDON4Apr 3, 2024
CDT13Jan 26, 2024
CEACAM162Jul 9, 2024
CEACAM16-AS12Jul 9, 2024
CEL2Nov 14, 2023
CELF21Jun 29, 2024
CENPE2Dec 26, 2023
CENPF8Nov 14, 2023
CENPJ1Feb 6, 2023
CEP10417Jan 26, 2024
CEP1202Jun 21, 2023
CEP1282Dec 26, 2023
CEP1526Aug 8, 2024
CEP1643Nov 14, 2023
CEP29070Aug 8, 2024
CEP634Feb 19, 2024
CEP85L3Aug 8, 2024
CERKL14Feb 19, 2024
CERS15Apr 3, 2024
CERS34Feb 6, 2023
CERS3-AS11Jan 6, 2022
CERT110Aug 8, 2024
CFAP4181May 17, 2023
CFAP927Aug 25, 2023
CFB5Aug 8, 2024
CFC11Mar 16, 2023
CFH13Aug 8, 2024
CFHR17Jul 9, 2024
CFHR27Jul 9, 2024
CFHR36Apr 3, 2024
CFHR47Apr 3, 2024
CFHR58Jul 9, 2024
CFI12Jul 9, 2024
CFTR1260Aug 8, 2024
CFTR-AS1119Aug 8, 2024
CHAMP17Aug 8, 2024
CHAT25Aug 8, 2024
CHCHD103Feb 19, 2024
CHCHD22Jun 21, 2023
CHD18Jul 9, 2024
CHD28Jul 9, 2024
CHD310Aug 8, 2024
CHD46Jul 9, 2024
CHD513Aug 8, 2024
CHD748Aug 8, 2024
CHD817Aug 8, 2024
CHEK13Jan 25, 2018
CHEK2236Aug 8, 2024
CHKB2Jul 9, 2024
CHKB-CPT1B2Jul 9, 2024
CHL11Oct 27, 2023
CHM1Nov 14, 2023
CHMP1A6Aug 8, 2024
CHMP2B2Jun 29, 2024
CHPT13Feb 26, 2021
CHRNA14Jul 9, 2024
CHRNA26Jan 26, 2024
CHRNA410Aug 8, 2024
CHRNA72Apr 3, 2024
CHRNB13Feb 19, 2024
CHRNB23Aug 8, 2024
CHRND1Jul 9, 2024
CHRNE21Jul 9, 2024
CHRNG12Jun 29, 2024
CHST142Oct 22, 2021
CHST32Jan 26, 2024
CHST614Aug 8, 2024
CIB25Dec 26, 2023
CIC19Aug 8, 2024
CIITA6Jul 9, 2024
CILK15Aug 8, 2024
CISD21Jul 25, 2023
CISD31Apr 3, 2024
CITED22Oct 2, 2023
CKAP2L1Jan 26, 2024
CLASP14Jun 29, 2024
CLCF12Jul 15, 2022
CLCN148Aug 8, 2024
CLCN210Aug 8, 2024
CLCN31Jun 29, 2024
CLCN45Jul 9, 2024
CLCN53Nov 14, 2023
CLCN62Jul 9, 2024
CLCN73Nov 14, 2023
CLCNKA2Jan 6, 2022
CLCNKB8Aug 8, 2024
CLDN141Jul 29, 2022
CLDN14-AS11Jul 29, 2022
CLIC23Aug 8, 2024
CLN334Aug 8, 2024
CLN524Aug 8, 2024
CLN630Aug 8, 2024
CLN824Aug 8, 2024
CLP11Dec 14, 2022
CLPB2Jul 9, 2024
CLPP1Dec 26, 2023
CLRN111Aug 8, 2024
CLRN1-AS11Jan 25, 2018
CLTC2Dec 26, 2023
CNGA14Feb 19, 2024
CNGA317Aug 8, 2024
CNGB111Feb 19, 2024
CNGB312Jun 29, 2024
CNKSR23Jun 29, 2024
CNNM23Feb 19, 2024
CNOT17Jul 9, 2024
CNOT21Jul 15, 2022
CNPY32Jul 9, 2024
CNPY3-GNMT2Jul 9, 2024
CNTN21Dec 31, 2020
CNTN41Nov 10, 2022
CNTN61Sep 14, 2022
CNTNAP13Oct 27, 2023
CNTNAP222Aug 8, 2024
CNTNAP51Nov 10, 2020
COASY7Jan 26, 2024
COBL1May 13, 2020
COCH2Feb 19, 2024
COG21Jul 9, 2024
COG42Aug 8, 2024
COG56Jul 9, 2024
COG61Feb 9, 2022
COG72Nov 14, 2023
COG81Mar 11, 2022
COL10A15Apr 3, 2024
COL11A131Aug 8, 2024
COL11A224Aug 8, 2024
COL12A110Jun 29, 2024
COL17A113Aug 8, 2024
COL18A123Aug 8, 2024
COL1A160Jul 9, 2024
COL1A252Jul 9, 2024
COL27A130Aug 8, 2024
COL2A120Aug 8, 2024
COL3A1138Aug 8, 2024
COL4A133Aug 8, 2024
COL4A230Jul 9, 2024
COL4A2-AS13Jun 29, 2024
COL4A2-AS26Jul 9, 2024
COL4A3121Aug 8, 2024
COL4A458Aug 8, 2024
COL4A555Aug 8, 2024
COL4A64Jan 26, 2024
COL5A1171Aug 8, 2024
COL5A298Aug 8, 2024
COL6A120Aug 8, 2024
COL6A214Aug 8, 2024
COL6A332Jul 9, 2024
COL7A1105Aug 8, 2024
COL8A21Sep 14, 2022
COL9A112Aug 8, 2024
COL9A214Aug 8, 2024
COL9A320Aug 8, 2024
COLEC112Apr 3, 2024
COLGALT11Nov 14, 2023
COLQ16Aug 8, 2024
COMP3Aug 8, 2024
COPA1May 12, 2022
COQ25Jul 9, 2024
COQ42Aug 8, 2024
COQ71Oct 27, 2023
COQ8A4Jul 9, 2024
COQ8B1Feb 19, 2024
COQ92Nov 14, 2023
CORO1A6Aug 8, 2024
COX102Jun 29, 2024
COX1511Jun 28, 2024
COX202Jun 21, 2023
COX6A12Jan 26, 2024
CP23Aug 8, 2024
CPA63Jan 26, 2024
CPAMD81Aug 8, 2024
CPE2Aug 8, 2024
CPEB1-AS14Apr 3, 2024
CPLANE145Aug 8, 2024
CPOX1May 17, 2023
CPS169Aug 8, 2024
CPSF11Feb 19, 2024
CPT1A14Aug 8, 2024
CPT1C9Aug 8, 2024
CPT243Jul 9, 2024
CR21Aug 25, 2023
CRADD3Jun 29, 2024
CRAT2Jun 29, 2024
CRB140Aug 8, 2024
CRB26Aug 8, 2024
CRBN1Mar 6, 2020
CREB3L17Aug 8, 2024
CREB3L31Aug 8, 2024
CREBBP25Aug 8, 2024
CRELD11Dec 26, 2023
CRIPT1Aug 30, 2022
CRLF111Aug 8, 2024
CRTAP9Jul 9, 2024
CRYAB6Jul 9, 2024
CRYBA41Oct 6, 2020
CRYBB11Oct 6, 2020
CRYM1Aug 8, 2024
CSDE11Apr 19, 2022
CSF1R6Jul 9, 2024
CSF2RA2Mar 6, 2020
CSF3R1Aug 8, 2024
CSNK2A13Aug 8, 2024
CSNK2B2Jan 11, 2023
CSPP13Apr 3, 2024
CSRP316Feb 19, 2024
CSTB1Oct 13, 2022
CTC113Feb 19, 2024
CTCF6Apr 3, 2024
CTDP11Aug 8, 2024
CTF18Jun 21, 2023
CTNNA22Nov 14, 2023
CTNNA326Aug 8, 2024
CTNNB17Jul 9, 2024
CTNNBL11Apr 3, 2024
CTNND11Mar 16, 2023
CTNS45Aug 8, 2024
CTNS-AS117Aug 8, 2024
CTPS11Jul 9, 2024
CTSA19Aug 8, 2024
CTSB1Dec 31, 2020
CTSC5Jul 9, 2024
CTSD10Aug 8, 2024
CTSF11Jan 26, 2024
CTSK8Jul 9, 2024
CTU21Feb 19, 2024
CTXN2-AS14Jan 11, 2023
CUBN5Jun 29, 2024
CUL34Jul 9, 2024
CUL4B2Oct 27, 2023
CUL728Aug 8, 2024
CUX18Aug 8, 2024
CUX27Aug 8, 2024
CWC271Jul 9, 2024
CWF19L12Dec 26, 2023
CYB561D22Jan 26, 2024
CYB5R33Aug 8, 2024
CYBA17Aug 8, 2024
CYBB42Aug 8, 2024
CYCS3Jun 29, 2024
CYFIP24Aug 25, 2023
CYGB1Mar 11, 2022
CYLD1Apr 3, 2024
CYLD-AS21Apr 3, 2024
CYP11A13Aug 8, 2024
CYP11B149Aug 8, 2024
CYP11B28Aug 8, 2024
CYP17A125Aug 8, 2024
CYP17A1-AS12Sep 14, 2022
CYP19A13Jul 9, 2024
CYP1B153Aug 8, 2024
CYP21A248Aug 8, 2024
CYP24A15Jun 29, 2024
CYP27A133Aug 8, 2024
CYP27B18Aug 8, 2024
CYP2R12Aug 8, 2024
CYP2U11Oct 13, 2022
CYP2U1-AS11Oct 13, 2022
CYP4F2213Aug 8, 2024
CYP7B15Jul 9, 2024
CZ1P-ASNS19Aug 8, 2024
D2HGDH4Jun 21, 2023
DAG13Jul 9, 2024
DARS25Jul 9, 2024
DBH1Jan 26, 2024
DBNL2Oct 27, 2023
DBT27Aug 8, 2024
DCAF176Jul 25, 2023
DCAF84Dec 26, 2023
DCC7Apr 3, 2024
DCHS18Jul 9, 2024
DCLRE1B1Mar 6, 2020
DCLRE1C22Jul 9, 2024
DCPS4Mar 16, 2023
DCT2Jun 29, 2024
DCTN15Feb 19, 2024
DCX1Jun 29, 2024
DDB12Aug 8, 2024
DDB21Mar 16, 2023
DDC19Aug 8, 2024
DDC-AS15Aug 8, 2024
DDHD22Jul 25, 2023
DDR24Oct 2, 2023
DDX118Aug 8, 2024
DDX3X9Jun 29, 2024
DDX64Nov 14, 2023
DEAF16Feb 19, 2024
DENND5A1Jan 11, 2023
DEPDC520Aug 8, 2024
DES44Aug 8, 2024
DES-LCR1Nov 10, 2020
DGAT11Aug 8, 2024
DGKE7Aug 8, 2024
DGUOK10Jul 9, 2024
DGUOK-AS12Oct 2, 2023
DHCR242Aug 8, 2024
DHCR796Aug 8, 2024
DHDDS6Aug 25, 2023
DHFR2Jun 29, 2024
DHODH1Aug 25, 2023
DHPS1Jun 29, 2024
DHTKD116Aug 8, 2024
DHX161Jun 29, 2024
DHX307Aug 8, 2024
DHX373Jun 29, 2024
DIABLO1Jan 26, 2024
DIAPH12Apr 14, 2023
DIAPH33Feb 19, 2024
DICER12Jun 29, 2024
DIP2B6Jul 9, 2024
DIS3L21Jul 9, 2024
DKC11May 12, 2022
DLAT6Apr 3, 2024
DLD9May 17, 2023
DLG37Aug 8, 2024
DLG47Jan 26, 2024
DLL16Jun 29, 2024
DLL33Aug 8, 2024
DLL41Oct 6, 2020
DLX51Apr 3, 2024
DMAC2L1Jul 25, 2023
DMD357Aug 8, 2024
DMP11Dec 26, 2023
DMPK1Feb 19, 2024
DMXL28Aug 8, 2024
DNA217Aug 8, 2024
DNAAF32Jan 6, 2022
DNAAF3-AS11Jan 6, 2022
DNAAF4-CCPG11Nov 14, 2023
DNAH118Aug 8, 2024
DNAH59Aug 8, 2024
DNAH72Mar 6, 2020
DNAH91Oct 13, 2022
DNAI11Aug 8, 2024
DNAI22Aug 25, 2023
DNAJB61Dec 26, 2023
DNAJC197Jun 29, 2024
DNAJC53Aug 8, 2024
DNAJC61Jan 26, 2024
DNAJC91Jun 29, 2024
DNASE12Jul 9, 2024
DNASE1L11Aug 18, 2011
DNM17Jul 9, 2024
DNM1L5Jan 26, 2024
DNM23Aug 8, 2024
DNMT15Jul 9, 2024
DNMT3A1Dec 26, 2023
DNMT3B7Aug 8, 2024
DOCK34Jun 29, 2024
DOCK62Mar 16, 2023
DOCK711Aug 8, 2024
DOCK833Jul 9, 2024
DOCK8-AS12Mar 11, 2022
DOHH2Jul 9, 2024
DOK726Aug 8, 2024
DOLK14Jun 29, 2024
DONSON2Jun 21, 2023
DOP1A2Apr 14, 2023
DOT1L1Jan 26, 2024
DPAGT12Mar 16, 2023
DPH16Jun 29, 2024
DPM12Jun 21, 2023
DPM22Aug 25, 2023
DPP64Jul 9, 2024
DPYD67Aug 8, 2024
DPYD-AS17Apr 14, 2023
DPYS1Jul 9, 2024
DPYSL53Jul 9, 2024
DRD21Oct 2, 2023
DRD42Feb 19, 2024
DSC282Aug 8, 2024
DSCAS1Sep 9, 2020
DSG280Apr 3, 2024
DSG2-AS129Apr 3, 2024
DSP208Aug 8, 2024
DSP-AS19Nov 14, 2023
DSPP5Apr 3, 2024
DST7Jul 9, 2024
DST-AS11Jan 26, 2024
DSTYK1Apr 14, 2023
DTNA42Jun 29, 2024
DTNBP19Aug 8, 2024
DUOX229Aug 8, 2024
DUOXA11Jul 25, 2023
DUOXA28Jul 9, 2024
DVL13Jul 9, 2024
DVL31Jul 25, 2023
DYM1Nov 10, 2022
DYNC1H130Aug 8, 2024
DYNC1I23Aug 8, 2024
DYNC2H147Aug 8, 2024
DYNC2I22Jun 29, 2024
DYNC2LI122Aug 8, 2024
DYRK1A8Oct 2, 2023
DYSF83Aug 8, 2024
EARS25Jan 26, 2024
EBF36Apr 3, 2024
ECE12Jun 29, 2024
ECHS14Feb 19, 2024
EDA10Jun 29, 2024
EDC31Jan 26, 2024
EDN32Nov 14, 2023
EDNRA1Dec 26, 2023
EDNRB2Jun 29, 2024
EDNRB-AS12Jun 29, 2024
EED1Aug 8, 2024
EEF1A23Apr 3, 2024
EEF26Aug 8, 2024
EEF2KMT4Feb 6, 2023
EFEMP236Aug 8, 2024
EFHC12May 17, 2023
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EFTUD24Jun 29, 2024
EGF3Nov 14, 2023
EGILA1Sep 14, 2022
EGR21Mar 11, 2022
EHHADH2Feb 19, 2024
EHMT110Jun 29, 2024
EHMT2-AS11Feb 19, 2024
EIF2AK14Jul 9, 2024
EIF2AK21Aug 30, 2022
EIF2AK33Aug 8, 2024
EIF2B18Jul 9, 2024
EIF2B213Aug 8, 2024
EIF2B311Jul 9, 2024
EIF2B410Jul 9, 2024
EIF2B515Aug 8, 2024
EIF3F2Oct 2, 2023
EIF4G12Apr 3, 2024
ELAC23Aug 25, 2023
ELMOD31Oct 13, 2022
ELN11Jul 9, 2024
ELN-AS11May 17, 2023
ELOVL45Jun 29, 2024
ELOVL51Aug 30, 2022
ELP141Jul 9, 2024
ELP23Aug 8, 2024
EMC12May 17, 2023
EMC1-AS11May 17, 2023
EMD20Jan 26, 2024
EME22Jun 28, 2024
ENG13Jul 9, 2024
ENPP19Aug 8, 2024
ENTREP21Jul 9, 2024
EP30012Jul 9, 2024
EP4001Feb 9, 2021
EPB41L13Dec 26, 2023
EPB424Feb 19, 2024
EPCAM14Jul 9, 2024
EPG510Jul 9, 2024
EPHA31Feb 26, 2021
EPHB43Jun 29, 2024
EPRS12Feb 19, 2024
EPS8L22Jul 25, 2023
ERBB33Oct 27, 2023
ERBB45Jun 29, 2024
ERCC244Aug 8, 2024
ERCC311Jun 29, 2024
ERCC414Jan 26, 2024
ERCC528Jun 29, 2024
ERCC640Aug 8, 2024
ERCC6L21Oct 2, 2023
ERCC816Jun 29, 2024
ERCC8-AS11Jan 11, 2023
ERF2Jul 25, 2023
ERMARD2Jul 15, 2022
ESCO21May 17, 2023
ETFA12Aug 8, 2024
ETFB11Jul 9, 2024
ETFDH48Aug 8, 2024
ETHE120Jul 9, 2024
ETV66Jun 29, 2024
EVC24Aug 8, 2024
EVC212Jun 29, 2024
EXOSC312Aug 8, 2024
EXOSC91Nov 10, 2022
EXT11Apr 24, 2019
EXT21Mar 11, 2022
EYA13Apr 3, 2024
EYA436Jun 29, 2024
EYS117Aug 8, 2024
EZH21Jul 9, 2024
F1120Aug 8, 2024
F11-AS15Aug 8, 2024
F121Jan 26, 2024
F13A118Aug 8, 2024
F13B5Feb 19, 2024
F23Feb 19, 2024
F51Jun 29, 2024
F716Aug 8, 2024
F869Aug 8, 2024
F942Aug 8, 2024
FA2H20Aug 8, 2024
FADD2Aug 8, 2024
FAH31Aug 8, 2024
FAM111A4Jun 29, 2024
FAM111B1Nov 16, 2021
FAM149B12Jun 29, 2024
FAM161A9Jul 9, 2024
FAM20A7Jun 29, 2024
FAM20C2Nov 14, 2023
FAM83H1Jun 29, 2024
FAN11Jul 25, 2023
FANCA74Aug 8, 2024
FANCB4Jul 15, 2022
FANCC83Aug 8, 2024
FANCD231Aug 8, 2024
FANCD2OS6Aug 8, 2024
FANCE7Jan 26, 2024
FANCF11Jan 26, 2024
FANCG10Feb 19, 2024
FANCI19Aug 8, 2024
FANCL14Jun 28, 2024
FAR11Aug 8, 2024
FARS29Jun 29, 2024
FAS1Jul 9, 2024
FASLG1Dec 26, 2023
FASN1Nov 14, 2023
FASTKD23Aug 8, 2024
FAT219Aug 8, 2024
FAT417Jul 9, 2024
FBLIM11Oct 13, 2022
FBLN53Jul 9, 2024
FBN1701Aug 21, 2024
FBN2146Aug 8, 2024
FBP14Jul 9, 2024
FBXL319Aug 8, 2024
FBXL49Jun 29, 2024
FBXO117Jul 9, 2024
FBXO384Jan 26, 2024
FBXW111Apr 19, 2022
FBXW74Aug 8, 2024
FCN31Aug 25, 2023
FCSK9Aug 8, 2024
FDFT13Jan 26, 2024
FECH4Jul 25, 2023
FERMT35Jun 29, 2024
FEZF11Jan 26, 2024
FGA21Aug 8, 2024
FGB13Aug 8, 2024
FGD15Aug 8, 2024
FGD44Jul 9, 2024
FGF132Feb 19, 2024
FGF142Jul 9, 2024
FGF236Feb 19, 2024
FGF32Dec 26, 2023
FGF82Apr 3, 2024
FGFR115Aug 8, 2024
FGFR28Jun 29, 2024
FGFR330Aug 8, 2024
FGG18Aug 8, 2024
FH25Aug 8, 2024
FHL111Jan 26, 2024
FIG46Jul 9, 2024
FKBP1014Aug 8, 2024
FKBP142Oct 27, 2023
FKBP14-AS12Oct 27, 2023
FKRP42Aug 8, 2024
FKTN42Aug 8, 2024
FLAD14Aug 8, 2024
FLCN29Apr 3, 2024
FLG5Aug 8, 2024
FLI11Dec 26, 2023
FLNA128Aug 8, 2024
FLNB17Aug 8, 2024
FLNC140Aug 8, 2024
FLNC-AS142Aug 8, 2024
FLRT31Nov 14, 2023
FLT43Oct 27, 2023
FLVCR12Oct 27, 2023
FMN26Jun 29, 2024
FMO316Jul 9, 2024
FMR13Aug 8, 2024
FN12Dec 26, 2023
FOXC11Apr 3, 2024
FOXE11Jul 25, 2023
FOXE317Oct 2, 2023
FOXG15Aug 8, 2024
FOXH14Aug 25, 2023
FOXI11Jul 9, 2024
FOXN17Jul 9, 2024
FOXP16Aug 8, 2024
FOXP23Oct 27, 2023
FOXP38Jan 26, 2024
FOXRED114Aug 8, 2024
FRA10AC11Dec 26, 2023
FRAS137Jan 26, 2024
FREM11Jan 26, 2024
FREM221Jul 9, 2024
FRMD4A3Aug 8, 2024
FRMD52Jan 26, 2024
FRMD71Feb 19, 2024
FRMPD48Jun 29, 2024
FRRS1L1Apr 3, 2024
FTCD4Nov 14, 2023
FTL8Jul 9, 2024
FTO1Apr 3, 2024
FTSJ11Jun 21, 2023
FUCA117Jul 9, 2024
FUS3Jun 29, 2024
FUT81Jun 29, 2024
FUZ1Jul 9, 2024
FXN3Aug 8, 2024
FXYD21Jan 26, 2024
FXYD6-FXYD21Jan 26, 2024
FYCO11Feb 19, 2024
FZR11Feb 19, 2024
G6PC142Aug 8, 2024
G6PC33Aug 8, 2024
G6PD28Aug 8, 2024
GAA243Aug 21, 2024
GABBR24Feb 19, 2024
GABRA13Apr 3, 2024
GABRA31Dec 26, 2023
GABRA53Jul 9, 2024
GABRB11Jun 29, 2024
GABRB22Feb 19, 2024
GABRB32Feb 19, 2024
GABRD3Aug 8, 2024
GABRG23Aug 8, 2024
GABRQ1Jul 25, 2023
GAD11Apr 14, 2023
GAL3ST41Nov 10, 2020
GALC95Aug 8, 2024
GALE14Jan 26, 2024
GALK115Aug 8, 2024
GALNS89Aug 8, 2024
GALNT31Nov 14, 2023
GALT163Aug 8, 2024
GAMT28Aug 8, 2024
GAN1Apr 3, 2024
GAREM222Aug 8, 2024
GARS19Aug 8, 2024
GATA11Jan 26, 2024
GATA21Jan 26, 2024
GATA33Jul 9, 2024
GATA45Jan 26, 2024
GATA52Oct 2, 2023
GATA64May 17, 2023
GATAD114Apr 3, 2024
GATAD2B3Apr 3, 2024
GATM5Jul 9, 2024
GBA1129Aug 8, 2024
GBA26Jun 29, 2024
GBE134Aug 8, 2024
GCDH87Aug 8, 2024
GCH14Aug 8, 2024
GCK224Aug 8, 2024
GCM23Jan 26, 2024
GDAP116Aug 8, 2024
GDF15Apr 3, 2024
GDF111Feb 6, 2023
GDF53Jul 9, 2024
GDF5-AS12Jul 9, 2024
GDF63Aug 8, 2024
GDI15Jul 9, 2024
GEMIN42Sep 14, 2022
GEMIN58Jun 29, 2024
GFAP11Jul 9, 2024
GFER2Dec 26, 2023
GFI11Jun 17, 2021
GFI1B5Jul 9, 2024
GFM113Aug 8, 2024
GFM21Oct 2, 2023
GFPT113Aug 8, 2024
GH-LCR17Jul 9, 2024
GH110Jul 9, 2024
GHR10Apr 3, 2024
GHRHR10Feb 19, 2024
GHSR5Aug 8, 2024
GIGYF22Feb 19, 2024
GIMAP1-GIMAP51Feb 19, 2024
GIMAP51Feb 19, 2024
GINS32Mar 6, 2020
GJA15Jun 29, 2024
GJA52Aug 8, 2024
GJB112Aug 8, 2024
GJB2155Aug 8, 2024
GJB31Dec 14, 2022
GJB67Oct 2, 2023
GJC23Apr 3, 2024
GJD2-DT36Jun 29, 2024
GLA201Aug 8, 2024
GLB163Aug 8, 2024
GLDC77Aug 8, 2024
GLDN1Dec 26, 2023
GLE14Aug 8, 2024
GLI15Aug 8, 2024
GLI225Jul 9, 2024
GLI32Jun 29, 2024
GLIS32Apr 3, 2024
GLRA15Aug 8, 2024
GLRA21Dec 26, 2023
GLRB2Dec 14, 2022
GLUD15Jul 9, 2024
GLYCTK2Jan 11, 2023
GML17Oct 18, 2019
GMNN1Jan 26, 2024
GMPPA2Oct 27, 2023
GMPPB4Nov 14, 2023
GNA112Jul 9, 2024
GNAI12Jul 9, 2024
GNAI31Apr 29, 2020
GNAL2Aug 21, 2024
GNAO13Aug 8, 2024
GNAS10Aug 8, 2024
GNB15Feb 19, 2024
GNB42Dec 26, 2023
GNB52Nov 10, 2022
GNE54Aug 8, 2024
GNPAT4Aug 25, 2023
GNPTAB66Aug 8, 2024
GNPTG5Jun 29, 2024
GNRHR9Aug 8, 2024
GNS4Jun 21, 2023
GORAB1Jul 29, 2022
GOSR22Aug 8, 2024
GP1BA23Aug 8, 2024
GP1BB8Aug 8, 2024
GP616Aug 8, 2024
GP98Jan 26, 2024
GPAA12Oct 13, 2022
GPC38Apr 3, 2024
GPC42Oct 2, 2023
GPD1L15Jul 9, 2024
GPHN27Aug 8, 2024
GPI1Jun 21, 2023
GPLD11Feb 19, 2024
GPR1011Apr 3, 2024
GPR1434Aug 8, 2024
GPT22Feb 19, 2024
GRAP1Oct 2, 2023
GREB1L3Oct 2, 2023
GRHL21Jan 26, 2024
GRHPR16Jun 29, 2024
GRIA17Aug 8, 2024
GRIA23Jul 9, 2024
GRIA36Jul 9, 2024
GRIA44Feb 19, 2024
GRID22Nov 10, 2022
GRIK21Aug 25, 2023
GRIN110Aug 8, 2024
GRIN2A17Aug 8, 2024
GRIN2B13Aug 8, 2024
GRIN2D12Jul 9, 2024
GRIP110Aug 8, 2024
GRM16Aug 8, 2024
GRN6Aug 8, 2024
GRXCR11Dec 2, 2020
GSC2Jan 26, 2024
GSDME1Jul 9, 2024
GSEC2Mar 16, 2023
GSN4Jan 26, 2024
GSS18Jul 9, 2024
GTF2IRD12Jan 26, 2024
GTF3C2-AS27Jul 9, 2024
GTPBP37Jun 29, 2024
GUCY2D17Aug 8, 2024
GUF18Apr 3, 2024
GUSB32Aug 8, 2024
GYG15Apr 3, 2024
GYS12Dec 26, 2023
GYS24Aug 8, 2024
H1-41Nov 14, 2023
H3-3B1Dec 26, 2023
H4C31Jun 29, 2024
HABP21Dec 26, 2023
HACE11Apr 3, 2024
HADH2Dec 26, 2023
HADHA41Aug 8, 2024
HADHB14Jul 9, 2024
HAL1Jul 25, 2023
HAMP2Apr 14, 2023
HAND12Nov 14, 2023
HARS16Jul 9, 2024
HAX14Mar 16, 2023
HBA-LCR8Aug 8, 2024
HBA114Aug 8, 2024
HBA225Aug 8, 2024
HBB372Aug 8, 2024
HCFC117Aug 8, 2024
HCK1Jul 9, 2024
HCN12Apr 3, 2024
HCN21Nov 14, 2023
HCN431Aug 8, 2024
HDAC21Dec 31, 2020
HDAC62Aug 8, 2024
HDAC84Jan 26, 2024
HDC1Jul 9, 2024
HEATR31Oct 2, 2023
HECW213Aug 8, 2024
HELLS2Dec 26, 2023
HEPACAM7Jun 28, 2024
HEPHL11Sep 14, 2022
HERC19Jul 9, 2024
HERC28Jul 9, 2024
HESX13Apr 3, 2024
HEXA113Aug 8, 2024
HEXA-AS15Jul 29, 2022
HEXB62Aug 8, 2024
HFE19Aug 8, 2024
HFE-AS16Jun 21, 2023
HGD6Jul 9, 2024
HGSNAT47Apr 3, 2024
HIBCH1Dec 26, 2023
HINT11Jun 21, 2023
HIVEP11Jul 9, 2024
HIVEP220Aug 8, 2024
HJV9Aug 8, 2024
HK16Feb 19, 2024
HLCS26Aug 8, 2024
HMBS14Jul 9, 2024
HMGCL17Jul 9, 2024
HMGCS22Jun 29, 2024
HNF1A110Aug 8, 2024
HNF1B39Aug 8, 2024
HNF4A57Aug 8, 2024
HNMT2Jul 9, 2024
HNRNPA2B11Oct 27, 2023
HNRNPDL4Jun 29, 2024
HNRNPH11Jan 26, 2024
HNRNPH22Jul 29, 2022
HNRNPK1Jun 29, 2024
HNRNPU2Feb 19, 2024
HNRNPUL2-BSCL24Aug 21, 2024
HOGA112Aug 8, 2024
HOMER21Jan 26, 2024
HOPX4Mar 6, 2020
HOXA111Jul 9, 2024
HOXB1314Oct 27, 2023
HOXD101Feb 19, 2024
HOXD131Dec 26, 2023
HPD13Jun 29, 2024
HPRT13Jan 26, 2024
HPS125Aug 8, 2024
HPS310Aug 8, 2024
HPS427Aug 8, 2024
HPS526Aug 8, 2024
HPS618Jul 9, 2024
HRAS46Apr 3, 2024
HRG3Apr 3, 2024
HRG-AS11Oct 2, 2023
HS6ST13Jul 9, 2024
HS6ST23Jun 29, 2024
HSD11B25Jul 9, 2024
HSD17B105Jun 29, 2024
HSD17B35Aug 8, 2024
HSD17B431Aug 8, 2024
HSD3B217Aug 8, 2024
HSERVPRODH1Nov 14, 2023
HSF41Sep 14, 2022
HSPA91Apr 3, 2024
HSPB12Oct 27, 2023
HSPB31Nov 14, 2023
HSPD15Dec 26, 2023
HSPG210Aug 8, 2024
HTR1A1Apr 19, 2022
HTRA15Jul 9, 2024
HTT5Apr 3, 2024
HUWE118Aug 8, 2024
HYAL13Mar 16, 2023
HYCC14Feb 19, 2024
HYI1Nov 14, 2023
HYLS15Dec 26, 2023
IARS12Nov 14, 2023
IARS21Jun 29, 2024
IBA574May 17, 2023
ICOS1Aug 8, 2024
IDH23Jun 29, 2024
IDH3B1Aug 8, 2024
IDS28Aug 8, 2024
IDUA99Aug 8, 2024
IFIH19Aug 8, 2024
IFIT1B1Aug 8, 2024
IFITM53Jan 26, 2024
IFNAR11Oct 2, 2023
IFNGR118Jan 26, 2024
IFNGR25Oct 27, 2023
IFT1223Oct 27, 2023
IFT14026Aug 8, 2024
IFT1721Apr 19, 2022
IFT271Dec 26, 2023
IFT801Dec 31, 2020
IFT811Jan 26, 2024
IGF11Jul 9, 2024
IGF1R12Jul 9, 2024
IGF26Apr 3, 2024
IGFALS11Aug 8, 2024
IGHMBP214Aug 8, 2024
IHH1Jul 9, 2024
IKBKB7Feb 19, 2024
IKBKG14Jul 9, 2024
IKZF51Jul 9, 2024
IL12RB12Feb 19, 2024
IL17RC1Aug 8, 2024
IL17RD4Jun 29, 2024
IL1RAPL16Aug 8, 2024
IL2RA3Aug 8, 2024
IL2RG18Jan 26, 2024
IL4I12Mar 6, 2020
IL7R19Aug 8, 2024
INF27Aug 8, 2024
INPP5E24Aug 8, 2024
INS10Apr 3, 2024
INS-IGF215Apr 3, 2024
INSL62Aug 8, 2024
INSR6Aug 8, 2024
INTS13Aug 8, 2024
INTS82Nov 14, 2023
INVS4Aug 8, 2024
IPO81Feb 19, 2024
IQSEC11Jun 29, 2024
IQSEC29Aug 8, 2024
IRAIN1Jun 28, 2024
IRAK1BP14Jul 9, 2024
IRF2BPL4Jun 29, 2024
IRF33Nov 14, 2023
IRF61Aug 30, 2022
IRF81Mar 6, 2020
ISCA21Oct 2, 2023
ITGA2B29Aug 8, 2024
ITGA76Jul 9, 2024
ITGB320Aug 8, 2024
ITGB41Jul 9, 2024
ITK2Aug 8, 2024
ITM2B2Aug 25, 2023
ITPA7Dec 26, 2023
ITPR117Jul 9, 2024
IVD32Aug 8, 2024
IYD3Jul 9, 2024
JAG121Jun 29, 2024
JAG21Feb 19, 2024
JAK24Aug 21, 2024
JAK330Jun 29, 2024
JARID21Aug 25, 2023
JMJD82Apr 3, 2024
JPH11Dec 26, 2023
JPH218Jul 9, 2024
JPH33Aug 8, 2024
JUP87Jun 29, 2024
KANK13Jan 11, 2023
KANSL19Apr 3, 2024
KARS11Dec 26, 2023
KAT52Jun 29, 2024
KAT6A10Aug 8, 2024
KAT6B10Aug 8, 2024
KAT81Feb 19, 2024
KATNB12Aug 8, 2024
KATNIP10Jul 9, 2024
KBTBD137Jun 29, 2024
KCNA14Jul 9, 2024
KCNA513Jul 9, 2024
KCNB14Jul 9, 2024
KCNC13Jul 9, 2024
KCNC36Jul 9, 2024
KCND23Dec 26, 2023
KCND310Feb 19, 2024
KCNE111Aug 8, 2024
KCNE27Sep 1, 2021
KCNE33Feb 19, 2024
KCNE51May 17, 2023
KCNH14Jul 9, 2024
KCNH298Jul 9, 2024
KCNH52Jun 29, 2024
KCNJ116Aug 8, 2024
KCNJ1118Jul 9, 2024
KCNJ164Jun 29, 2024
KCNJ215Aug 8, 2024
KCNJ58Jan 26, 2024
KCNJ64Aug 8, 2024
KCNJ6-AS14Aug 8, 2024
KCNJ82Jan 26, 2024
KCNK91Mar 6, 2020
KCNMA19Jul 9, 2024
KCNMA1-AS14Jul 9, 2024
KCNN32Nov 14, 2023
KCNQ1100Aug 8, 2024
KCNQ1-AS110Aug 8, 2024
KCNQ1OT17Jul 15, 2022
KCNQ216Aug 8, 2024
KCNQ36Dec 26, 2023
KCNQ43Nov 14, 2023
KCNQ55Jul 9, 2024
KCNT110Jul 9, 2024
KCNT23Dec 26, 2023
KCTD171Oct 27, 2023
KCTD710Jul 9, 2024
KDM1A4Jun 29, 2024
KDM3B8Aug 8, 2024
KDM4B4Jun 29, 2024
KDM5B4Jul 9, 2024
KDM5C8Apr 3, 2024
KDM6A9Feb 19, 2024
KDM6B6Jul 9, 2024
KIAA05868Aug 8, 2024
KIAA07531Apr 19, 2022
KIDINS2207Jul 9, 2024
KIF115Jun 29, 2024
KIF1419Jul 9, 2024
KIF1A21Aug 8, 2024
KIF1B9Jun 29, 2024
KIF1C2Jul 9, 2024
KIF21A3Apr 3, 2024
KIF26A3Jun 29, 2024
KIF2A5Jul 9, 2024
KIF4A7Jul 9, 2024
KIF5A12Aug 21, 2024
KIF5C7Aug 8, 2024
KIF76Apr 3, 2024
KIRREL27Jul 29, 2022
KISS1R4Aug 8, 2024
KITLG1Aug 25, 2023
KLF113Oct 2, 2023
KLF9-DT1Nov 14, 2023
KLHL154Apr 3, 2024
KLHL33Aug 8, 2024
KLHL401Jun 29, 2024
KLHL71Aug 8, 2024
KLLN27Aug 8, 2024
KMT2A20Aug 8, 2024
KMT2B11Aug 8, 2024
KMT2C43Aug 8, 2024
KMT2D23Aug 8, 2024
KMT2E6Jun 29, 2024
KMT5B2Apr 3, 2024
KNG11Oct 2, 2023
KNL13Jul 9, 2024
KPNA31Oct 2, 2023
KPTN1Aug 25, 2023
KRAS31Oct 2, 2023
KRIT11Dec 26, 2023
KRT141Mar 6, 2020
KRT81Jan 26, 2024
KY1Oct 2, 2023
KYNU2Dec 26, 2023
L1CAM35Aug 8, 2024
L2HGDH3Nov 14, 2023
LAGE31Jul 9, 2024
LAMA129Jul 9, 2024
LAMA276Aug 8, 2024
LAMA325Jun 29, 2024
LAMA455Jun 29, 2024
LAMA4-AS12Nov 14, 2023
LAMA53Oct 2, 2023
LAMB14Jun 29, 2024
LAMB21Oct 27, 2023
LAMB348Jan 26, 2024
LAMC216Aug 8, 2024
LAMC315Aug 8, 2024
LAMP11Aug 8, 2024
LAMP219Feb 19, 2024
LANCL31Jul 9, 2024
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MPDU13Feb 19, 2024
MPDU1-AS11Jan 26, 2024
MPDZ6Apr 3, 2024
MPG1Jul 9, 2024
MPI9Jun 29, 2024
MPIG6B1Jul 9, 2024
MPL31Aug 8, 2024
MPO1Aug 8, 2024
MPV1710Jul 9, 2024
MPZ7Aug 8, 2024
MPZL21Jul 29, 2022
MRAS21Aug 8, 2024
MRE1164Apr 3, 2024
MRNIP1Jul 9, 2024
MRPL443Jun 29, 2024
MRPS21Feb 6, 2023
MRPS221Jan 26, 2024
MRPS281Apr 3, 2024
MRPS343Jun 28, 2024
MSH2520Aug 8, 2024
MSH6714Aug 21, 2024
MSN1Jul 29, 2022
MSTO13Aug 8, 2024
MSX23Jul 9, 2024
MTFMT2Jul 9, 2024
MTHFD110Jan 26, 2024
MTHFR15Aug 8, 2024
MTM111Aug 8, 2024
MTMR141Jun 29, 2024
MTMR23Feb 19, 2024
MTO15Jan 26, 2024
MTOR13Aug 8, 2024
MTOR-AS13Aug 8, 2024
MTPAP1Jun 29, 2024
MTR3Aug 8, 2024
MTRFR3Jun 29, 2024
MTRR1Aug 25, 2023
MTSS23Feb 19, 2024
MTTP31Oct 2, 2023
MUS812Aug 25, 2023
MUSK6Jul 9, 2024
MUTYH201Aug 8, 2024
MVK9Aug 8, 2024
MVP-DT10Jul 9, 2024
MYBPC12Dec 26, 2023
MYBPC3160Jul 9, 2024
MYCN2Aug 8, 2024
MYCNOS1Nov 14, 2023
MYF62Aug 8, 2024
MYH11206Aug 8, 2024
MYH1420Aug 8, 2024
MYH214Aug 8, 2024
MYH313Jul 9, 2024
MYH6161Jul 9, 2024
MYH7168Aug 8, 2024
MYH82Feb 19, 2024
MYH922Aug 8, 2024
MYHAS14Jul 9, 2024
MYL225Nov 14, 2023
MYL319Feb 19, 2024
MYLK193Aug 8, 2024
MYLK-AS121Feb 19, 2024
MYLK236Jun 29, 2024
MYMK2Jan 26, 2024
MYO15A24Aug 8, 2024
MYO18B7Jun 29, 2024
MYO18B-AS11Jun 29, 2024
MYO195Jun 21, 2023
MYO1C1Dec 26, 2023
MYO1E2Aug 8, 2024
MYO1F1Mar 6, 2020
MYO3A1Nov 14, 2023
MYO63Jul 9, 2024
MYO7A65Aug 8, 2024
MYO9A2Aug 8, 2024
MYOT16Jun 29, 2024
MYOZ27Oct 2, 2023
MYPN46Jun 29, 2024
MYRF2Apr 3, 2024
MYSM12Jun 29, 2024
MYT1L7Aug 8, 2024
NAA101Feb 19, 2024
NAA152Jun 29, 2024
NAA381Jul 29, 2022
NACC13Jun 29, 2024
NADSYN12Jan 26, 2024
NAGA4Jan 26, 2024
NAGLU61Aug 8, 2024
NAGS7Jul 9, 2024
NALCN12Jul 9, 2024
NALCN-AS11Jan 26, 2024
NANS1Jan 26, 2024
NARS13Aug 8, 2024
NARS23Apr 3, 2024
NAT8L3Jun 29, 2024
NAXE2Oct 2, 2023
NBAS45Aug 8, 2024
NBEA8Aug 8, 2024
NBEAL219Aug 8, 2024
NBN211Aug 8, 2024
NCAPD22Mar 16, 2023
NCAPD32Jan 26, 2024
NCAPG24Dec 26, 2023
NCAPH26Aug 8, 2024
NCF13Apr 14, 2023
NCF217Aug 8, 2024
NCF413Aug 8, 2024
NCF4-AS16Feb 19, 2024
NCOR21Aug 6, 2020
NDE184Aug 8, 2024
NDP2Jul 9, 2024
NDP-AS12Jul 9, 2024
NDRG13Jun 29, 2024
NDST11Dec 31, 2020
NDUFA12Aug 8, 2024
NDUFA102Jun 29, 2024
NDUFA124Jul 9, 2024
NDUFA92Jan 11, 2023
NDUFAF12Jul 9, 2024
NDUFAF29Nov 14, 2023
NDUFAF512Feb 19, 2024
NDUFAF62Jun 29, 2024
NDUFAF81Jun 17, 2021
NDUFB111Jan 26, 2024
NDUFB31Jul 15, 2022
NDUFB81Apr 19, 2022
NDUFB92Apr 3, 2024
NDUFS25Apr 3, 2024
NDUFS415Jul 9, 2024
NDUFS62Apr 19, 2022
NDUFS79Jul 9, 2024
NDUFS82Feb 19, 2024
NDUFV123Aug 8, 2024
NDUFV21Aug 30, 2022
NEB261Aug 8, 2024
NEBL45Jun 29, 2024
NECAP11Jan 26, 2024
NEDD4L3Aug 8, 2024
NEFH9Aug 8, 2024
NEK12Jun 29, 2024
NEK83Aug 8, 2024
NEMF1Feb 19, 2024
NEU116Jul 9, 2024
NEUROD14Jul 9, 2024
NEXMIF12Jul 9, 2024
NEXN10Jun 29, 2024
NF1267Aug 21, 2024
NF214Aug 8, 2024
NFE2L22Dec 26, 2023
NFIA2Apr 3, 2024
NFIB4Jul 9, 2024
NFIX4Jul 9, 2024
NFKB22Apr 14, 2023
NFU13Oct 27, 2023
NGLY116Jun 29, 2024
NHEJ14Mar 16, 2023
NHS2Apr 3, 2024
NICN11Nov 14, 2023
NID11Aug 8, 2024
NIN3Dec 26, 2023
NIPA11Dec 14, 2022
NIPAL412Jul 9, 2024
NIPBL20Aug 8, 2024
NIPSNAP3B18Apr 3, 2024
NKAP1Jul 25, 2023
NKX2-13Jun 29, 2024
NKX2-512Jun 29, 2024
NKX2-64Jan 26, 2024
NLGN36Jul 9, 2024
NLGN4X4Aug 8, 2024
NLRC45Aug 8, 2024
NLRP11Oct 27, 2023
NLRP125Nov 14, 2023
NLRP35Jul 9, 2024
NME71Nov 20, 2015
NOD23Oct 27, 2023
NOG2Jul 9, 2024
NOL36Jun 29, 2024
NONO8Jun 29, 2024
NOS1AP19Oct 2, 2023
NOTCH1205Aug 8, 2024
NOTCH212Aug 8, 2024
NOTCH323Jul 9, 2024
NOVA23Jul 9, 2024
NPC1129Aug 8, 2024
NPC210Jan 26, 2024
NPHP116Aug 8, 2024
NPHP319Aug 8, 2024
NPHP3-ACAD1119Aug 8, 2024
NPHP3-AS13Apr 19, 2022
NPHP42Jun 17, 2021
NPHS1104Aug 8, 2024
NPHS236Jun 29, 2024
NPPA9Jul 9, 2024
NPPA-AS18Mar 16, 2023
NPPC1Jan 26, 2024
NPR27Apr 3, 2024
NPRL24Jul 9, 2024
NPRL312Aug 8, 2024
NR0B15Jun 29, 2024
NR2E34Aug 8, 2024
NR2F11Mar 6, 2020
NR2F1-AS11Mar 6, 2020
NR2F21May 17, 2023
NR3C23Jul 9, 2024
NR4A22Aug 8, 2024
NRAS17Nov 14, 2023
NRIP11Feb 19, 2024
NRXN17Jun 29, 2024
NSD120Aug 8, 2024
NSD26Jul 9, 2024
NSDHL5Feb 19, 2024
NSMCE31Jul 9, 2024
NSRP11Jun 29, 2024
NSUN24Oct 2, 2023
NSUN624Jul 9, 2024
NT5C22Apr 14, 2023
NT5DC15Apr 3, 2024
NTRK125Jul 9, 2024
NTRK24Aug 8, 2024
NUBPL4Dec 26, 2023
NUDT21Jun 29, 2024
NUP1072Nov 14, 2023
NUP1331Aug 8, 2024
NUP1882Dec 26, 2023
NUP2142May 17, 2023
NUP622Mar 6, 2020
NUS11Nov 10, 2022
NXN1Apr 14, 2023
OAT11Aug 8, 2024
OBI1-AS13Aug 8, 2024
OBSCN1Jan 26, 2024
OBSL149Aug 8, 2024
OCA246Aug 8, 2024
OCRL13Jul 9, 2024
ODAD21Oct 2, 2023
ODC11Oct 27, 2023
OFD18Jul 9, 2024
OGDHL2Apr 3, 2024
OMG1Oct 2, 2023
OPA129Aug 8, 2024
OPA1-AS11Jul 25, 2023
OPA32Oct 2, 2023
OPHN14Jun 29, 2024
OPTN1Dec 26, 2023
ORAI15Apr 3, 2024
ORC11Apr 3, 2024
ORC61Feb 19, 2024
OSGEP1Jul 9, 2024
OSGIN21Sep 1, 2021
OSMR2Oct 27, 2023
OSTM13Apr 14, 2023
OTC43Aug 8, 2024
OTOA4Aug 8, 2024
OTOF53Aug 8, 2024
OTOG4Jun 29, 2024
OTUD51Sep 1, 2021
OTUD6B2Mar 6, 2020
OTULIN2Jul 9, 2024
OXCT11Apr 3, 2024
OXR11Apr 19, 2022
OXTR24Jul 9, 2024
P2RX22Feb 19, 2024
P2RY124Jul 9, 2024
P3H114Jul 9, 2024
P4HB1Jul 9, 2024
PABPN11Dec 14, 2022
PACS18Aug 8, 2024
PACS23Jul 9, 2024
PAFAH1B11Nov 14, 2023
PAH261Aug 8, 2024
PAK33Jul 9, 2024
PAK61Jan 11, 2023
PALB2391Aug 8, 2024
PANK233Jun 29, 2024
PARK72Jun 29, 2024
PARN1Apr 3, 2024
PARS22Aug 8, 2024
PAX13Jul 9, 2024
PAX23Aug 8, 2024
PAX33Aug 25, 2023
PAX46Aug 25, 2023
PAX61Jan 26, 2024
PAX82Nov 14, 2023
PBX11Jul 9, 2024
PC8Aug 8, 2024
PCCA51Aug 8, 2024
PCCB56Aug 8, 2024
PCDH1579Aug 8, 2024
PCDH198Aug 8, 2024
PCGF21Apr 3, 2024
PCLO27Aug 8, 2024
PCNT4Aug 8, 2024
PCSK51Apr 19, 2022
PCSK9125Aug 8, 2024
PDCD22Jul 15, 2022
PDE10A3Jul 9, 2024
PDE11A3Dec 26, 2023
PDE11A-AS11Feb 9, 2022
PDE3A4Dec 26, 2023
PDE3A-AS11Aug 30, 2022
PDE6A5Jun 29, 2024
PDE8B7Jun 29, 2024
PDGFB2Jul 9, 2024
PDGFRA1Jul 9, 2024
PDGFRB5Aug 8, 2024
PDHA114Jun 29, 2024
PDHB5Aug 8, 2024
PDHX15Jun 29, 2024
PDK32Nov 14, 2023
PDLIM317Feb 19, 2024
PDP11Mar 11, 2022
PDSS23Aug 25, 2023
PDX122Jul 9, 2024
PDYN1Aug 25, 2023
PDYN-AS11Aug 25, 2023
PDZD71Mar 16, 2023
PDZD83Jun 29, 2024
PDZD91Jun 21, 2023
PEPD2Aug 8, 2024
PET1001Oct 2, 2023
PEX156Aug 8, 2024
PEX1020Aug 8, 2024
PEX11B2Sep 14, 2022
PEX1217Nov 14, 2023
PEX134Jan 26, 2024
PEX143Oct 2, 2023
PEX162Jun 21, 2023
PEX191Nov 16, 2021
PEX212Jan 26, 2024
PEX2610Jul 9, 2024
PEX35Aug 8, 2024
PEX59Aug 8, 2024
PEX644Aug 8, 2024
PEX724Aug 8, 2024
PFAS1Jul 25, 2023
PFKM6May 17, 2023
PFN12Apr 14, 2023
PGAM22Oct 27, 2023
PGAP31Jan 11, 2023
PGBD34Jul 9, 2024
PGGHG1Jul 25, 2023
PGK15Jun 29, 2024
PGM15Apr 3, 2024
PGM38Jan 26, 2024
PHACTR14Jun 29, 2024
PHEX24Aug 8, 2024
PHEX-AS11Apr 3, 2024
PHF21A2May 12, 2022
PHF327Jul 9, 2024
PHF84Oct 27, 2023
PHGDH14Jun 29, 2024
PHIP7Jul 9, 2024
PHKA112Aug 8, 2024
PHKA217Aug 8, 2024
PHKA2-AS13Nov 14, 2023
PHKB24Jul 9, 2024
PHKG210Jul 9, 2024
PHOX2B12Nov 14, 2023
PHOX2B-AS11Jan 25, 2018
PHYH5Aug 8, 2024
PI4KA4Dec 26, 2023
PIBF11Jan 26, 2024
PIDD18Jan 26, 2024
PIEZO13Jun 29, 2024
PIEZO214Aug 8, 2024
PIGA4Jul 9, 2024
PIGB2Jan 26, 2024
PIGG10Aug 8, 2024
PIGK1Jul 9, 2024
PIGL1Oct 13, 2022
PIGN10Aug 8, 2024
PIGO4Jul 9, 2024
PIGQ1Apr 14, 2023
PIGT1Aug 25, 2023
PIGW3Jun 21, 2023
PIH1D22Apr 3, 2024
PIK3CA4Nov 14, 2023
PIK3CG2Aug 8, 2024
PIK3R14Jul 9, 2024
PIK3R23Jul 9, 2024
PIK3R52Jul 9, 2024
PIP5K1C2Feb 19, 2024
PIRC663Jul 9, 2024
PITX21Feb 9, 2022
PJVK4Aug 8, 2024
PKD165Aug 8, 2024
PKD1-AS18Jul 9, 2024
PKD1L14Aug 8, 2024
PKD1L1-AS11Jul 9, 2024
PKD210Aug 8, 2024
PKD2L2-DT16Jun 29, 2024
PKHD1268Aug 8, 2024
PKLR5Dec 26, 2023
PKP2121Aug 8, 2024
PLA2G650Aug 8, 2024
PLA2G78Aug 8, 2024
PLAG11Feb 6, 2023
PLAU3Aug 8, 2024
PLCB11Aug 8, 2024
PLCB41Jul 9, 2024
PLCG22Nov 14, 2023
PLCH23Mar 16, 2023
PLD12Jul 9, 2024
PLEC12Aug 8, 2024
PLEKHG210Apr 3, 2024
PLEKHG31Jun 29, 2024
PLEKHG517Aug 8, 2024
PLG19Aug 8, 2024
PLN1Mar 6, 2020
PLOD163Aug 21, 2024
PLOD216Aug 8, 2024
PLOD31Aug 25, 2023
PLP12Feb 19, 2024
PLS11Apr 3, 2024
PLUT7Jul 9, 2024
PLXNA12Feb 19, 2024
PLXNA31Jan 26, 2024
PMM285Aug 8, 2024
PMP223Aug 25, 2023
PMPCA2Jul 9, 2024
PMS2482Aug 8, 2024
PNKD8Jul 9, 2024
PNKP9Aug 8, 2024
PNP9Aug 8, 2024
PNPLA114Aug 8, 2024
PNPLA21Oct 27, 2023
PNPLA68Jul 9, 2024
PNPLA83Oct 2, 2023
PNPO13Aug 8, 2024
PNPT111Aug 8, 2024
POC1A3Jun 29, 2024
POGLUT11Dec 26, 2023
POGZ8Jun 29, 2024
POLA16Apr 3, 2024
POLD1103Dec 26, 2023
POLE161Aug 8, 2024
POLG107Aug 8, 2024
POLG29Aug 8, 2024
POLGARF107Aug 8, 2024
POLH12Jun 28, 2024
POLK3Aug 8, 2024
POLR1A1Jan 11, 2023
POLR1B1May 12, 2022
POLR1C27Aug 8, 2024
POLR2A6Aug 8, 2024
POLR2F5Aug 8, 2024
POLR3A10Jul 9, 2024
POLR3B3Apr 14, 2023
POLR3GL1Dec 26, 2023
POLR3H1Apr 3, 2024
POLRMT9Aug 8, 2024
POMGNT118Aug 8, 2024
POMK2Apr 3, 2024
POMP1Mar 11, 2022
POMT124Aug 8, 2024
POMT225Jul 9, 2024
PON226Jul 9, 2024
POP11Jan 26, 2024
POR21Aug 8, 2024
POT11Dec 14, 2022
POU1F17Jun 29, 2024
POU3F41Dec 26, 2023
POU4F13Aug 8, 2024
PPA22Sep 14, 2022
PPARG1Dec 14, 2022
PPFIBP11Feb 19, 2024
PPIB7Aug 8, 2024
PPM1D5Aug 8, 2024
PPOX1Nov 14, 2023
PPP1CB9Apr 3, 2024
PPP1R12A1Jul 9, 2024
PPP1R213Jun 29, 2024
PPP2CA2Jan 26, 2024
PPP2R1A6Feb 19, 2024
PPP2R3C1Oct 27, 2023
PPP2R5D6Jul 9, 2024
PPP3CA2Aug 25, 2023
PPT127Jun 29, 2024
PQBP12Oct 2, 2023
PRADX1Jan 6, 2022
PRCD1Mar 11, 2022
PRDM1649Jun 29, 2024
PRDM57Apr 14, 2023
PREPL3Jul 9, 2024
PRF149Aug 8, 2024
PRICKLE15Aug 8, 2024
PRICKLE21Jul 9, 2024
PRKAG241Jun 29, 2024
PRKAR1A60Jun 29, 2024
PRKAR1B1Aug 8, 2024
PRKCG8Jul 9, 2024
PRKD12Nov 14, 2023
PRKDC23Jul 9, 2024
PRKG137Aug 8, 2024
PRKN7Jun 29, 2024
PRMT76Aug 8, 2024
PRNP5Feb 19, 2024
PROC7Aug 8, 2024
PRODH8Aug 8, 2024
PROK22Apr 3, 2024
PROKR211Jul 9, 2024
PROP110Jul 9, 2024
PRPH3Jul 9, 2024
PRPH21Dec 26, 2023
PRR123Jul 9, 2024
PRRT210Jul 9, 2024
PRRX11Aug 8, 2024
PRSS173Jul 9, 2024
PRSS128Dec 26, 2023
PRUNE11Aug 8, 2024
PRX7Aug 8, 2024
PSAP11Aug 8, 2024
PSAT13Apr 3, 2024
PSEN119Aug 8, 2024
PSEN210Aug 8, 2024
PSMB81Oct 13, 2022
PSMB8-AS11Jul 25, 2023
PSMD122Apr 14, 2023
PSPH1Jul 9, 2024
PTCD32May 12, 2022
PTCH151Aug 8, 2024
PTCH25Apr 3, 2024
PTCHD12Mar 11, 2022
PTCHD1-AS6Aug 8, 2024
PTEN135Aug 8, 2024
PTHLH1Aug 5, 2021
PTPN11147Aug 8, 2024
PTPN236Apr 3, 2024
PTPN42Jun 29, 2024
PTPRA1Aug 8, 2024
PTPRC7Feb 19, 2024
PTPRQ3Aug 8, 2024
PTPRT1Nov 14, 2023
PTS19Aug 8, 2024
PUF602Nov 14, 2023
PUM16Apr 3, 2024
PURA3Jul 9, 2024
PUS17Jul 9, 2024
PUS35Dec 26, 2023
PUS71Sep 14, 2022
PYCR116Aug 8, 2024
PYCR23Apr 3, 2024
PYGL6Jan 26, 2024
PYGM40Aug 8, 2024
PYY2Jul 9, 2024
QARS14Jul 9, 2024
QDPR9Jul 9, 2024
QRICH13Aug 8, 2024
QRSL11Oct 27, 2023
RAB235Jan 26, 2024
RAB27A4Jul 9, 2024
RAB33A4Aug 8, 2024
RAB39B1Jun 21, 2023
RAB3GAP13Aug 8, 2024
RAB3GAP23Apr 3, 2024
RAB7A1Dec 26, 2023
RAB9B2Feb 19, 2024
RAC16Jul 9, 2024
RAD211Nov 10, 2020
RAD50112Aug 8, 2024
RAD511Feb 19, 2024
RAD51C124Aug 8, 2024
RAD51D108Aug 8, 2024
RAD51L3-RFFL106Aug 8, 2024
RAF1104Aug 8, 2024
RAG147Aug 8, 2024
RAG221Aug 8, 2024
RAI19Aug 8, 2024
RALA1Nov 14, 2023
RANBP24Aug 25, 2023
RANGRF3Jul 9, 2024
RAPSN14Aug 8, 2024
RARS11Oct 2, 2023
RARS231Aug 8, 2024
RASA2102Aug 8, 2024
RASGRP11May 12, 2022
RASGRP28Jun 29, 2024
RB128Jul 9, 2024
RBBP82Jun 29, 2024
RBCK11Oct 2, 2023
RBM103Oct 27, 2023
RBM2071Aug 8, 2024
RBM283Jun 29, 2024
RBM8A4Aug 8, 2024
RBMX3Apr 3, 2024
RBPJ1Dec 26, 2023
RBX11Nov 14, 2023
RD32Jun 29, 2024
RDH1226Aug 8, 2024
RDH51Oct 27, 2023
RECQL49Nov 14, 2023
REEP21May 17, 2023
RELN30Jul 9, 2024
RERE15Jul 9, 2024
REST1Dec 14, 2022
RET69Aug 8, 2024
RETREG11Oct 2, 2023
RETREG1-AS11Oct 2, 2023
RFT11Jul 25, 2023
RFX510Jan 26, 2024
RFX74Jun 29, 2024
RFXANK3Nov 10, 2022
RFXAP3Aug 30, 2022
RHAG3Oct 27, 2023
RHOBTB22Dec 26, 2023
RIF167Aug 8, 2024
RIGI1May 12, 2022
RIMS11Nov 10, 2020
RIN22Jun 21, 2023
RIT135Jul 9, 2024
RLBP113Aug 8, 2024
RLIG14Feb 19, 2024
RLIM1Jan 26, 2024
RMC11Aug 8, 2024
RMND13Aug 8, 2024
RMRP101Aug 8, 2024
RNASE41Sep 14, 2022
RNASEH11Oct 27, 2023
RNASEH2A9Aug 8, 2024
RNASEH2B12Aug 8, 2024
RNASEH2B-AS11Oct 2, 2023
RNASEH2C3Oct 2, 2023
RNASET22Aug 8, 2024
RNF1251Jul 9, 2024
RNF1702Apr 14, 2023
RNF21Nov 14, 2023
RNF21317Aug 8, 2024
RNF213-AS13Apr 3, 2024
RNPC31Apr 3, 2024
RNU4ATAC4Jun 29, 2024
ROBO11Aug 25, 2023
ROBO31Aug 8, 2024
ROBO41Apr 3, 2024
ROGDI1Dec 14, 2022
ROR23Aug 8, 2024
RORA6Aug 8, 2024
RORA-AS15Aug 8, 2024
RORB2Jul 9, 2024
RP1L11May 17, 2023
RP27Feb 6, 2023
RPE6532Aug 8, 2024
RPGR17Feb 19, 2024
RPGRIP125Aug 8, 2024
RPGRIP1L24Aug 8, 2024
RPH3A1Mar 6, 2020
RPIA4Feb 19, 2024
RPL102Jun 29, 2024
RPL271Dec 14, 2022
RPL36A-HNRNPH2202Aug 8, 2024
RPL3L2Jul 25, 2023
RPS192Oct 2, 2023
RPS232Aug 8, 2024
RPS261Jun 29, 2024
RPS6KA35Jul 9, 2024
RRAS50Aug 8, 2024
RRM2B4Apr 3, 2024
RS110Aug 8, 2024
RTEL126Feb 19, 2024
RTEL1-TNFRSF6B26Feb 19, 2024
RTN25Jun 29, 2024
RTN4IP13Oct 2, 2023
RTTN4Jan 26, 2024
RUNX22Jun 21, 2023
RUSC21Jul 9, 2024
RXYLT11Jan 26, 2024
RYR1132Aug 21, 2024
RYR2368Aug 8, 2024
RYR312Aug 8, 2024
SACS70Aug 8, 2024
SAG1Oct 2, 2023
SALL11Jul 9, 2024
SALL45Aug 8, 2024
SAMD98Jul 9, 2024
SAMD9L6Aug 8, 2024
SAMHD114Aug 8, 2024
SARM14Jun 29, 2024
SASH12Apr 3, 2024
SASS62Apr 3, 2024
SATB11Jul 9, 2024
SATB23Aug 8, 2024
SBDS2Apr 3, 2024
SBF112Aug 8, 2024
SBF21Dec 26, 2023
SCAMP42Dec 31, 2020
SCARB21Nov 14, 2023
SCN10A48Aug 8, 2024
SCN11A12Jul 9, 2024
SCN1A73Aug 8, 2024
SCN1A-AS118Aug 8, 2024
SCN1B26Aug 8, 2024
SCN2A17Aug 8, 2024
SCN2B5Feb 19, 2024
SCN3A1Aug 8, 2024
SCN3B5Jul 9, 2024
SCN4A18Aug 8, 2024
SCN4B12Dec 26, 2023
SCN5A223Aug 8, 2024
SCN8A16Jul 9, 2024
SCN9A23Aug 8, 2024
SCNN1B8Jun 29, 2024
SCNN1G4Aug 8, 2024
SCO11Jul 25, 2023
SCO211Aug 8, 2024
SCUBE31Nov 14, 2023
SDCCAG814Aug 8, 2024
SDHA25Aug 8, 2024
SDHAF12Oct 2, 2023
SDHAF22Apr 3, 2024
SDHB38Jun 29, 2024
SDHC9Nov 14, 2023
SDHD11Jul 9, 2024
SDR9C77Aug 8, 2024
SEC23B10Aug 8, 2024
SEC24D2Oct 13, 2022
SEC31A3Feb 19, 2024
SEC631Aug 5, 2021
SECISBP21Oct 2, 2023
SELENON26Jun 29, 2024
SEMA3A1Jul 9, 2024
SEMA3E2Aug 8, 2024
SEMA6B1Jun 29, 2024
SEMA7A1Jun 29, 2024
SEPSECS7Jun 29, 2024
SEPT5-GP1BB8Aug 8, 2024
SEPTIN92Dec 26, 2023
SEPTIN9-DT1Nov 10, 2022
SERAC11Jul 25, 2023
SERPINA111Jul 9, 2024
SERPINA61Aug 8, 2024
SERPINA71Apr 3, 2024
SERPINC12Oct 22, 2021
SERPINF113Jun 29, 2024
SERPINH14Dec 26, 2023
SERPINI11Oct 27, 2023
SET2Jul 9, 2024
SETBP115Aug 8, 2024
SETD1A17Aug 8, 2024
SETD1B11Jul 9, 2024
SETD214Aug 8, 2024
SETD55Jun 29, 2024
SETX26Aug 8, 2024
SF3B11Aug 5, 2021
SF3B41Jun 21, 2023
SFTA33Jun 29, 2024
SGCA28Aug 8, 2024
SGCB11Jun 29, 2024
SGCD26Aug 8, 2024
SGCE5Aug 8, 2024
SGCG16Aug 8, 2024
SGSH52Aug 8, 2024
SH2B11Feb 19, 2024
SH2D1A3Apr 24, 2019
SH3PXD2B3Jul 25, 2023
SH3TC214Aug 8, 2024
SHANK26Apr 3, 2024
SHANK38Jul 9, 2024
SHH1Feb 6, 2023
SHMT21Feb 19, 2024
SHOC246Jul 9, 2024
SHOX42Aug 8, 2024
SHPK1Apr 3, 2024
SHQ11Jun 29, 2024
SHROOM43Oct 27, 2023
SI7Feb 19, 2024
SIAE1Mar 16, 2023
SIK18Jul 9, 2024
SIL13Dec 26, 2023
SIM11Dec 2, 2020
SIM1-AS11Dec 2, 2020
SIN3A9Jul 9, 2024
SIX12Nov 10, 2022
SIX31Nov 14, 2023
SKI32Oct 2, 2023
SKIC214Apr 14, 2023
SKIC322Aug 8, 2024
SLC12A113Jul 9, 2024
SLC12A22Jun 29, 2024
SLC12A358Aug 8, 2024
SLC12A58Aug 8, 2024
SLC12A5-AS11May 12, 2022
SLC12A619Jan 26, 2024
SLC13A31Aug 8, 2024
SLC13A51Aug 25, 2023
SLC16A16Jul 9, 2024
SLC16A26Jul 9, 2024
SLC17A525Jan 26, 2024
SLC17A83Oct 2, 2023
SLC19A112Aug 8, 2024
SLC19A21Feb 19, 2024
SLC19A35Aug 8, 2024
SLC1A11Feb 19, 2024
SLC1A24Feb 19, 2024
SLC1A31Jan 11, 2023
SLC1A42Oct 2, 2023
SLC20A26Jul 9, 2024
SLC22A41Jan 11, 2023
SLC22A595Aug 8, 2024
SLC25A12Mar 6, 2020
SLC25A1329Aug 8, 2024
SLC25A1514Aug 8, 2024
SLC25A2025Aug 8, 2024
SLC25A221Jun 21, 2023
SLC25A241Jan 26, 2024
SLC25A263Jan 26, 2024
SLC25A321Jan 26, 2024
SLC25A353Jul 9, 2024
SLC25A45Nov 14, 2023
SLC26A119Aug 25, 2023
SLC26A112May 12, 2022
SLC26A235Aug 8, 2024
SLC26A37Aug 8, 2024
SLC26A4102Aug 8, 2024
SLC26A4-AS16Apr 14, 2023
SLC26A5-AS17Jun 29, 2024
SLC27A48Aug 8, 2024
SLC2A115Jun 29, 2024
SLC2A1061Aug 8, 2024
SLC2A22Oct 2, 2023
SLC30A102Jun 21, 2023
SLC30A91Jul 9, 2024
SLC33A110Jun 29, 2024
SLC34A12Jul 9, 2024
SLC34A320Aug 8, 2024
SLC35A22Feb 19, 2024
SLC35A35Aug 8, 2024
SLC35B23Jun 29, 2024
SLC35C11Dec 26, 2023
SLC35D2-HSD17B35Aug 8, 2024
SLC36A113Aug 8, 2024
SLC37A440Feb 19, 2024
SLC38A81Jul 9, 2024
SLC39A131May 12, 2022
SLC39A142Dec 26, 2023
SLC39A44Aug 8, 2024
SLC39A51Oct 6, 2020
SLC39A81Apr 14, 2023
SLC3A15Apr 3, 2024
SLC40A11Apr 19, 2022
SLC44A44Jul 9, 2024
SLC45A29Aug 8, 2024
SLC46A110Jun 29, 2024
SLC4A11Dec 26, 2023
SLC4A1126Aug 8, 2024
SLC52A22Jul 25, 2023
SLC52A33Aug 8, 2024
SLC5A53Jun 29, 2024
SLC5A61Jan 11, 2023
SLC5A73Aug 8, 2024
SLC6A18Apr 3, 2024
SLC6A171Dec 26, 2023
SLC6A199Feb 19, 2024
SLC6A51Apr 3, 2024
SLC6A818Aug 8, 2024
SLC6A92Oct 2, 2023
SLC7A141Nov 10, 2022
SLC7A14-AS11Nov 10, 2022
SLC7A6OS1Oct 27, 2023
SLC7A718Aug 8, 2024
SLC7A91May 17, 2023
SLC9A11Jan 6, 2022
SLC9A62Nov 14, 2023
SLC9A73Nov 10, 2022
SLC9A95Jul 9, 2024
SLCO1B11Jan 11, 2023
SLCO1B31Jan 11, 2023
SLCO1B3-SLCO1B71Jan 11, 2023
SLFN141Feb 9, 2022
SLITRK12Dec 26, 2023
SLITRK22Jul 9, 2024
SLMAP13Aug 8, 2024
SLX410Jul 9, 2024
SMAD215Jul 9, 2024
SMAD331Aug 8, 2024
SMAD482Aug 8, 2024
SMAD633Aug 8, 2024
SMARCA11Nov 10, 2022
SMARCA213Aug 8, 2024
SMARCA43Jun 29, 2024
SMARCAL11Jul 9, 2024
SMARCB111Jul 9, 2024
SMARCC25Jun 29, 2024
SMARCD11Apr 3, 2024
SMARCE12Aug 25, 2023
SMC1A3Feb 19, 2024
SMC39Aug 8, 2024
SMCHD14Aug 8, 2024
SMG82Nov 14, 2023
SMG94Aug 8, 2024
SMN143Nov 14, 2023
SMN22Jun 29, 2024
SMPD1110Aug 8, 2024
SMPD41Jul 9, 2024
SMPX1May 12, 2022
SMS2Jun 29, 2024
SNAP251Jul 9, 2024
SNAP291Jul 9, 2024
SNAPC57Jan 11, 2023
SNCB1Nov 14, 2023
SNHG145Aug 8, 2024
SNHG315Jul 25, 2023
SNIP11Apr 14, 2023
SNORD1185Jun 29, 2024
SNRPN1Jun 29, 2024
SNTA132Aug 8, 2024
SNURF1Jun 29, 2024
SNX145Oct 27, 2023
SNX225Aug 8, 2024
SOCS12Jan 11, 2023
SOD14Aug 8, 2024
SON12Aug 8, 2024
SORD3Nov 14, 2023
SOS1188Aug 8, 2024
SOS2153Aug 8, 2024
SOX105Aug 8, 2024
SOX113Dec 26, 2023
SOX22Aug 8, 2024
SOX2-OT2Aug 8, 2024
SOX33Dec 26, 2023
SOX43Dec 26, 2023
SOX53Jul 9, 2024
SOX64Jan 26, 2024
SOX91Aug 8, 2024
SP1106Aug 8, 2024
SP1404Aug 8, 2024
SP71Aug 8, 2024
SPAG81Dec 14, 2022
SPARC2Jul 9, 2024
SPAST18Aug 8, 2024
SPATA2243Aug 8, 2024
SPATA721Aug 8, 2024
SPECC1L4Jun 29, 2024
SPECC1L-ADORA2A4Jun 29, 2024
SPEG3Jul 9, 2024
SPEN4Jul 9, 2024
SPG1160Aug 8, 2024
SPG212Jul 9, 2024
SPG751Aug 8, 2024
SPINK137Jun 29, 2024
SPINK52Jun 29, 2024
SPOP1Apr 19, 2022
SPR1Mar 6, 2020
SPRED162Aug 8, 2024
SPTA11Apr 19, 2022
SPTAN113Aug 8, 2024
SPTB1Jun 29, 2024
SPTBN111Jul 9, 2024
SPTBN1-AS21Nov 14, 2023
SPTBN225Aug 8, 2024
SPTBN45Feb 19, 2024
SPTLC13Jan 26, 2024
SPTLC22Aug 8, 2024
SQSTM15Aug 8, 2024
SRCAP28Aug 8, 2024
SRD5A27Oct 27, 2023
SRFBP122Aug 8, 2024
SRGAP11Feb 26, 2021
SRP721Jun 21, 2023
SRPX23Apr 3, 2024
SRRM29Aug 8, 2024
SSR42Jan 26, 2024
SSUH24Dec 26, 2023
ST3GAL32Apr 3, 2024
ST3GAL53Jul 9, 2024
STAC31Sep 14, 2022
STAG113Aug 8, 2024
STAG21Dec 26, 2023
STAMBP2Nov 14, 2023
STAR11Jul 9, 2024
STAT11Jun 28, 2024
STAT352Aug 8, 2024
STAT5B6Jun 29, 2024
STEEP11Jul 29, 2022
STIL1May 12, 2022
STIM17Aug 8, 2024
STK11166Aug 8, 2024
STK42Feb 6, 2023
STON1-GTF2A1L4Dec 26, 2023
STRA61Dec 14, 2022
STRC7Aug 8, 2024
STUB15Jul 9, 2024
STX116Aug 8, 2024
STX1B1Apr 3, 2024
STXBP13Jul 25, 2023
STXBP233Aug 8, 2024
STYXL21Mar 6, 2020
SUCLA22Aug 25, 2023
SUCLG12Nov 14, 2023
SUFU10Jan 26, 2024
SUGCT3Nov 14, 2023
SUMF127Aug 8, 2024
SUOX15Aug 8, 2024
SUPT16H2Aug 8, 2024
SURF158Aug 8, 2024
SUZ122Jul 9, 2024
SVIL1Dec 14, 2022
SYCE24Aug 30, 2022
SYK1Oct 27, 2023
SYN16Aug 8, 2024
SYNE164Aug 8, 2024
SYNE219Aug 8, 2024
SYNE46Feb 19, 2024
SYNGAP113Jun 29, 2024
SYNGAP1-AS112Jun 29, 2024
SYNJ14Feb 6, 2023
SYP4Aug 8, 2024
SYP-AS11Jun 21, 2023
SYT24Oct 2, 2023
SZT230Aug 8, 2024
SZT2-AS12Feb 19, 2024
TAB24Oct 27, 2023
TAF18Jun 29, 2024
TAF131Jul 9, 2024
TAF23Apr 3, 2024
TAF45Aug 8, 2024
TAF62Dec 21, 2021
TAFAZZIN10Jun 29, 2024
TANC23Apr 3, 2024
TANGO23Aug 8, 2024
TAOK12Jul 9, 2024
TAOK21Dec 14, 2022
TAP12Jul 25, 2023
TAP21Apr 14, 2023
TAPBPL1Jun 29, 2024
TARDBP1Nov 10, 2022
TARID7Aug 25, 2023
TARS21Jun 29, 2024
TASP11Jan 11, 2023
TAT4Aug 25, 2023
TAT-AS14Aug 25, 2023
TATDN11Apr 3, 2024
TBC1D247Jul 9, 2024
TBC1D71Apr 3, 2024
TBC1D7-LOC1001303571Apr 3, 2024
TBCD13Jul 9, 2024
TBCE4Jan 26, 2024
TBCEL-TECTA4Jun 29, 2024
TBCK8Jun 29, 2024
TBK13Jul 9, 2024
TBL1XR13Jan 26, 2024
TBL1XR1-AS11Oct 27, 2023
TBR12Aug 8, 2024
TBX116Jul 9, 2024
TBX191May 12, 2022
TBX22Nov 14, 2023
TBX205May 17, 2023
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX510Jan 26, 2024
TBXA2R7Aug 8, 2024
TBXAS115Jul 9, 2024
TCAP17Jun 29, 2024
TCEAL12Jan 26, 2024
TCF123Jun 29, 2024
TCF2020Aug 8, 2024
TCF31Jul 25, 2023
TCF45Feb 19, 2024
TCHH1May 17, 2023
TCIRG112Aug 8, 2024
TCOF16Jul 9, 2024
TCTN18Oct 2, 2023
TCTN214Jul 9, 2024
TCTN38Aug 8, 2024
TECPR213Aug 8, 2024
TECR2Apr 3, 2024
TECRL4Jul 9, 2024
TECTA4Jun 29, 2024
TEK2Jun 29, 2024
TELO24Jun 29, 2024
TENM43Dec 26, 2023
TENT5A1Nov 14, 2023
TERC1Aug 8, 2024
TERT4Aug 8, 2024
TET32Oct 2, 2023
TEX121Jan 11, 2023
TF3Jan 26, 2024
TFAP2A2Dec 26, 2023
TFAP2A-AS21Dec 26, 2023
TFAP2B3Jul 9, 2024
TFG2Jun 29, 2024
TFR24Aug 8, 2024
TG20Jul 9, 2024
TGDS3Apr 3, 2024
TGFB232Jun 29, 2024
TGFB325Jun 29, 2024
TGFBR148Aug 8, 2024
TGFBR258Aug 8, 2024
TGM135Aug 8, 2024
TGM611Jul 9, 2024
TH28Aug 8, 2024
TH2-LCR10Feb 19, 2024
TH2LCRR18Feb 19, 2024
THBD3Apr 3, 2024
THOC22Feb 19, 2024
THPO2Jul 9, 2024
THRA2Jul 9, 2024
THRB34Aug 8, 2024
THSD11Dec 14, 2022
THUMPD11Dec 26, 2023
TIAM12Apr 3, 2024
TIGD11Feb 9, 2022
TIMELESS1Feb 19, 2024
TIMMDC15Apr 14, 2023
TINF21Jul 25, 2023
TK219Aug 8, 2024
TKT1Feb 19, 2024
TLDC21Jan 11, 2023
TLK23Jun 29, 2024
TLL11Dec 31, 2020
TM4SF202Oct 2, 2023
TMC17Aug 8, 2024
TMCO11Nov 14, 2023
TMEM1075Jun 29, 2024
TMEM126B3Feb 19, 2024
TMEM1278Feb 19, 2024
TMEM1385Jul 9, 2024
TMEM1861Apr 3, 2024
TMEM2168Jul 9, 2024
TMEM23115Apr 3, 2024
TMEM2379Jun 21, 2023
TMEM2403Jun 29, 2024
TMEM2601Jun 29, 2024
TMEM38B14Aug 8, 2024
TMEM4363Aug 8, 2024
TMEM50B1Aug 18, 2011
TMEM541Jan 26, 2024
TMEM63A3Feb 19, 2024
TMEM6740Aug 8, 2024
TMEM704Apr 14, 2023
TMEM942Jun 29, 2024
TMLHE3Dec 26, 2023
TMPO35Apr 3, 2024
TMPO-AS16May 17, 2023
TMPPE3Mar 16, 2023
TMPRSS315Aug 8, 2024
TMTC31Sep 14, 2022
TMX22Jun 29, 2024
TMX2-CTNND13Jun 29, 2024
TNC12Aug 8, 2024
TNFAIP8L21Jan 26, 2024
TNFAIP8L2-SCNM11Jan 26, 2024
TNFRSF13B19Aug 8, 2024
TNFRSF1A2Jul 25, 2023
TNFSF113Jul 15, 2022
TNIK2Apr 3, 2024
TNNC112Jan 26, 2024
TNNI329Jul 9, 2024
TNNT11Aug 18, 2011
TNNT238Aug 8, 2024
TNNT31Oct 2, 2023
TNPO23Jun 29, 2024
TNPO35Jan 26, 2024
TNR1Apr 14, 2023
TNRC6B7Apr 3, 2024
TNS21Aug 8, 2024
TNXB26Aug 8, 2024
TOE19Aug 8, 2024
TOP2B4Oct 2, 2023
TOP3A2Apr 3, 2024
TOPORS1Oct 6, 2020
TOR1A1Aug 8, 2024
TOR1AIP12Aug 30, 2022
TP53146Aug 8, 2024
TP633Jun 29, 2024
TPD52-MRPS281Apr 3, 2024
TPK11Apr 3, 2024
TPM119Jan 26, 2024
TPM22Jul 25, 2023
TPO23Aug 8, 2024
TPP150Aug 8, 2024
TPP21Aug 8, 2024
TPRKB1Aug 25, 2023
TPRN1Jul 15, 2022
TRAF75Jul 9, 2024
TRAK11Oct 2, 2023
TRAPPC1112Apr 3, 2024
TRAPPC123Apr 3, 2024
TRAPPC12-AS11Sep 14, 2022
TRAPPC2L1Oct 2, 2023
TRAPPC98Aug 8, 2024
TRB73Jul 9, 2024
TRDN34Aug 8, 2024
TRDN-AS11Aug 8, 2024
TREM22Jul 25, 2023
TREX118Aug 8, 2024
TRIM141Jan 26, 2024
TRIM327May 17, 2023
TRIM371Aug 8, 2024
TRIM59-IFT801Dec 31, 2020
TRIM6323Jun 29, 2024
TRIO28Aug 8, 2024
TRIOBP6Dec 26, 2023
TRIP111Nov 14, 2023
TRIP1212Aug 8, 2024
TRIP42Oct 2, 2023
TRMT14Aug 8, 2024
TRMT10C2Jul 9, 2024
TRMT52Jun 28, 2024
TRMU17Aug 8, 2024
TRNT14Oct 2, 2023
TROAP-AS11Nov 14, 2023
TRPC33Aug 8, 2024
TRPM11Nov 10, 2022
TRPM33Jul 9, 2024
TRPM436Aug 8, 2024
TRPM62Aug 8, 2024
TRPM78Aug 21, 2024
TRPS12Dec 14, 2022
TRPV45Aug 8, 2024
TRRAP13Aug 8, 2024
TSC153Aug 8, 2024
TSC2118Aug 8, 2024
TSEN213Jul 9, 2024
TSEN342Feb 6, 2023
TSEN5414Apr 3, 2024
TSFM3Mar 16, 2023
TSHB2Aug 8, 2024
TSHR26Aug 8, 2024
TSHZ13Aug 8, 2024
TSPAN115Aug 8, 2024
TSPAN3123Jun 29, 2024
TSPAN72Apr 3, 2024
TSPEAR2Dec 14, 2022
TSR21Jul 9, 2024
TTBK23Dec 26, 2023
TTC191Oct 2, 2023
TTC36-AS11May 12, 2022
TTC7A19Jul 9, 2024
TTC85Jan 26, 2024
TTI12Aug 8, 2024
TTN1995Aug 8, 2024
TTN-AS11126Aug 8, 2024
TTPA20Aug 8, 2024
TTR50Aug 8, 2024
TUBA1A5Apr 3, 2024
TUBA4A1Jul 25, 2023
TUBA81Dec 26, 2023
TUBB16Jun 29, 2024
TUBB2A2Apr 3, 2024
TUBB38Aug 8, 2024
TUBB4A7Aug 8, 2024
TUBB65Aug 8, 2024
TUBGCP23Nov 14, 2023
TUBGCP61Apr 3, 2024
TUFM1Nov 14, 2023
TULP113Aug 8, 2024
TUSC32Dec 26, 2023
TWIST15Jul 9, 2024
TWIST21Jun 29, 2024
TWNK20Aug 8, 2024
TXN22Oct 27, 2023
TXNL4A1Nov 10, 2022
TYMP15Jul 9, 2024
TYR36Aug 8, 2024
TYROBP1Oct 13, 2022
TYRP16Aug 8, 2024
UBA12Apr 3, 2024
UBA51Aug 25, 2023
UBAP11Jul 9, 2024
UBE2A1Aug 8, 2024
UBE3A4Aug 8, 2024
UBE3B1Nov 14, 2023
UBE4A2Aug 8, 2024
UBQLN22Jun 29, 2024
UBR13Jul 9, 2024
UBTF5Apr 3, 2024
UCHL11Nov 14, 2023
UCP22Jan 26, 2024
UGT1A7Aug 8, 2024
UGT1A17Aug 8, 2024
UGT1A107Aug 8, 2024
UGT1A37Aug 8, 2024
UGT1A47Aug 8, 2024
UGT1A57Aug 8, 2024
UGT1A67Aug 8, 2024
UGT1A77Aug 8, 2024
UGT1A87Aug 8, 2024
UGT1A97Aug 8, 2024
UMPS3Jun 29, 2024
UNC13D41Aug 8, 2024
UNC809Feb 19, 2024
UNG4Sep 14, 2022
UPB15Aug 8, 2024
UPF3B2Aug 8, 2024
UQCRB1Apr 3, 2024
UQCRB-AS11Apr 3, 2024
UQCRC21Jun 21, 2023
UQCRFS11Dec 26, 2023
UROC13Nov 14, 2023
UROD2Feb 19, 2024
UROS1Jul 25, 2023
USB11Jun 29, 2024
USH1C14Aug 8, 2024
USH1G9Apr 3, 2024
USH2A285Aug 8, 2024
USH2A-AS117Aug 8, 2024
USH2A-AS215Aug 8, 2024
USP182Jan 26, 2024
USP27X1Feb 19, 2024
USP76Aug 8, 2024
USP9X8Aug 8, 2024
VAC141May 17, 2023
VAMP11Jun 29, 2024
VARS15Aug 8, 2024
VARS29Feb 19, 2024
VCAN3Jul 9, 2024
VCAN-AS11May 17, 2023
VCL48Jun 29, 2024
VCP2Mar 16, 2023
VDR5Aug 8, 2024
VHL99Apr 3, 2024
VIPAS399Jul 9, 2024
VLDLR5Feb 19, 2024
VMA213Jun 29, 2024
VPS112Aug 8, 2024
VPS13A6Aug 8, 2024
VPS13B80Aug 8, 2024
VPS13C8Jan 26, 2024
VPS163Aug 8, 2024
VPS33A1Feb 19, 2024
VPS33B8Jul 9, 2024
VPS37A2Dec 26, 2023
VPS451Jan 26, 2024
VPS4A1Nov 14, 2023
VPS501Jun 21, 2023
VPS511Aug 8, 2024
VPS5320Aug 8, 2024
VRK18Aug 8, 2024
VRK26Jan 26, 2024
VSX22Jul 9, 2024
VWA11Jan 11, 2023
VWA3B4Aug 8, 2024
VWF196Aug 8, 2024
WAC10Aug 8, 2024
WARS11Apr 3, 2024
WARS23Oct 27, 2023
WARS2-AS11Jun 21, 2023
WAS36Jul 9, 2024
WASF13Jul 25, 2023
WASHC46Aug 8, 2024
WASHC59Aug 8, 2024
WASHC5-AS13Aug 8, 2024
WDFY36Apr 3, 2024
WDPCP2Jun 29, 2024
WDR11Apr 14, 2023
WDR114Aug 8, 2024
WDR191Dec 21, 2021
WDR267Jun 29, 2024
WDR352Jun 29, 2024
WDR44Aug 8, 2024
WDR451Mar 6, 2020
WDR626Aug 8, 2024
WDR731Jul 29, 2022
WDR814Aug 8, 2024
WFS115Aug 8, 2024
WHRN11Jun 29, 2024
WNK113Aug 8, 2024
WNK31Dec 26, 2023
WNK48Aug 8, 2024
WNT18Aug 21, 2024
WNT10A8Jul 9, 2024
WNT5A2Apr 14, 2023
WNT7A1Dec 26, 2023
WRN18Aug 8, 2024
WT113Dec 26, 2023
WWOX7Jun 29, 2024
XDH4Jul 9, 2024
XIAP1Feb 6, 2023
XK1Jun 29, 2024
XPA20Jul 9, 2024
XPC39Jun 29, 2024
XPNPEP31Aug 8, 2024
XPR13Dec 26, 2023
XRCC41Dec 14, 2022
YAP11Nov 14, 2023
YARS12Aug 8, 2024
YARS21Nov 14, 2023
YTHDF31Jun 21, 2023
YWHAG1Jul 25, 2023
YY11Oct 27, 2023
ZAP7018Jun 29, 2024
ZBTB112Jun 21, 2023
ZBTB11-AS11Jun 21, 2023
ZBTB181Jul 9, 2024
ZBTB201Nov 14, 2023
ZBTB248Aug 8, 2024
ZBTB253Jan 11, 2023
ZBTB7A3Jul 9, 2024
ZC3H141Nov 14, 2023
ZC4H23Aug 8, 2024
ZDHHC2422Jan 26, 2024
ZDHHC91Mar 6, 2020
ZEB29Jul 9, 2024
ZFHX31Jun 29, 2024
ZFPM11Oct 6, 2020
ZFPM214Jul 9, 2024
ZFPM2-AS113Jul 9, 2024
ZFYVE2618Aug 8, 2024
ZFYVE274Apr 3, 2024
ZGRF11Oct 27, 2023
ZIC13Oct 27, 2023
ZIC22Jul 9, 2024
ZMIZ14May 17, 2023
ZMYM27Jul 9, 2024
ZMYND112Oct 2, 2023
ZNF1424May 17, 2023
ZNF1482Jun 29, 2024
ZNF27616Aug 8, 2024
ZNF29212Jun 29, 2024
ZNF3352Aug 8, 2024
ZNF4073Dec 26, 2023
ZNF4231Jan 26, 2024
ZNF46212Aug 8, 2024
ZNF46954Aug 8, 2024
ZNF6272Aug 8, 2024
ZNF6441Jul 9, 2024
ZNF6871Feb 19, 2024
ZNF6991Apr 14, 2023
ZNF7115Jun 29, 2024
ZNHIT32Oct 27, 2023
ZRANB31Aug 8, 2024
ZSWIM67Jun 29, 2024

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria6Aug 8, 2024
3-M syndrome8Feb 19, 2024
3-Methylglutaconic aciduria type 23Aug 30, 2022
3-Methylglutaconic aciduria type 31Nov 10, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Oct 27, 2023
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Jun 29, 2024
3-methylglutaconic aciduria type 11Jul 25, 2023
3-methylglutaconic aciduria, type VIIB1Nov 14, 2023
3M syndrome 24Jan 11, 2023
3M syndrome 35May 17, 2023
3MC syndrome 11Nov 10, 2022
3MC syndrome 21Nov 14, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency22Aug 8, 2024
8q24.3 microdeletion syndrome1Nov 16, 2021
AARS2-related disorder3Oct 2, 2023
ACAN-related disorder1Feb 6, 2023
ACE-related disorder1Nov 10, 2022
ACTG1-related disorder1Feb 6, 2023
ACVRL1-related disorder1Jun 21, 2023
ADGRV1-related disorder4Aug 8, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Feb 19, 2024
AGK-related disorder1Jan 26, 2024
ALDH18A1-related disorder1May 17, 2023
ALG1-congenital disorder of glycosylation10Jul 9, 2024
ALG12-congenital disorder of glycosylation4Jun 29, 2024
ALG3-congenital disorder of glycosylation1Jul 9, 2024
ALG6-congenital disorder of glycosylation 1C4Oct 2, 2023
ASCC1-related disorder1Jun 29, 2024
ATP1A3-associated neurological disorder1Feb 6, 2023
ATP1A3-related disorder1Nov 10, 2022
Abetalipoproteinaemia13Jun 21, 2023
Acetazolamide-responsive myotonia2Oct 27, 2023
Achondrogenesis type II10Feb 19, 2024
Achondroplasia4Jul 9, 2024
Achromatopsia 211Aug 8, 2024
Achromatopsia 34Jan 26, 2024
Acrocallosal syndrome1Nov 10, 2022
Action myoclonus-renal failure syndrome1Nov 14, 2023
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins37Jul 9, 2024
Acute intermittent porphyria1Oct 27, 2023
Adams-Oliver syndrome 22Mar 16, 2023
Adams-Oliver syndrome 51Oct 13, 2022
Adenylosuccinate lyase deficiency5Aug 8, 2024
Adrenoleukodystrophy32Aug 8, 2024
Agammaglobulinemia 8, autosomal dominant1Jul 25, 2023
Age related macular degeneration 71Aug 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy6May 17, 2023
Aicardi Goutieres syndrome18Aug 8, 2024
Aicardi-Goutieres syndrome 15May 5, 2024
Aicardi-Goutieres syndrome 61Aug 25, 2023
Al-Raqad syndrome2Mar 16, 2023
Alexander disease3Nov 14, 2023
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alkaptonuria1Jul 9, 2024
Alkuraya-Kucinskas syndrome3Feb 19, 2024
Allan-Herndon-Dudley syndrome2Apr 3, 2024
Alpha thalassemia-X-linked intellectual disability syndrome7May 5, 2024
Alpha-1-antitrypsin deficiency4May 3, 2024
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alstrom syndrome32Jun 29, 2024
Alternating hemiplegia of childhood 12Jun 29, 2024
Alzahrani-Kuwahara syndrome2Nov 14, 2023
Alzheimer disease2Feb 19, 2024
Alzheimer disease 38Jul 9, 2024
Alzheimer disease 41Apr 3, 2024
Amelocerebrohypohidrotic syndrome1Dec 14, 2022
Aminoacylase 1 deficiency2Jul 9, 2024
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyloidosis, hereditary systemic 122Apr 3, 2024
Amyotrophic lateral sclerosis type 12Jun 29, 2024
Amyotrophic lateral sclerosis type 41Sep 14, 2022
Amyotrophic lateral sclerosis type 91Sep 14, 2022
Andersen Tawil syndrome1Aug 8, 2024
Androgen resistance syndrome3Jul 9, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 27, 2021
Angelman syndrome1Aug 8, 2024
Anhidrotic ectodermal dysplasia4Dec 26, 2023
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency6Aug 8, 2024
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency37Jul 9, 2024
Aromatase deficiency1May 17, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2Aug 8, 2024
Arrhythmogenic right ventricular cardiomyopathy7Sep 24, 2019
Arterial tortuosity syndrome5Jul 9, 2024
Arthrogryposis, distal, type 2B21Oct 2, 2023
Aspartylglucosaminuria12Jul 9, 2024
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Asphyxiating thoracic dystrophy 36Aug 8, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome7Jul 9, 2024
Ataxia-telangiectasia syndrome191Aug 8, 2024
Ataxia-telangiectasia-like disorder2Apr 3, 2024
Atrial septal defect1Nov 20, 2015
Atrial septal defect 73Apr 11, 2018
Atrophia bulborum hereditaria1Jul 9, 2024
Attenuated familial adenomatous polyposis1Aug 8, 2024
Atypical glycine encephalopathy2Oct 2, 2023
Au-Kline syndrome1Jun 29, 2024
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3Sep 14, 2022
Autism spectrum disorder due to AUTS2 deficiency1Sep 14, 2022
Autism, susceptibility to, 151Jul 9, 2024
Autism, susceptibility to, 171Dec 14, 2022
Autism, susceptibility to, 51Jul 7, 2021
Autosomal dominant Alport syndrome1Jun 29, 2024
Autosomal dominant Parkinson disease 82Nov 14, 2023
Autosomal dominant epilepsy17Feb 19, 2024
Autosomal dominant hypocalcemia4Aug 8, 2024
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal dominant nocturnal frontal lobe epilepsy 31Jun 21, 2023
Autosomal dominant nonsyndromic hearing loss 111Aug 8, 2024
Autosomal recessive Alport syndrome42Jul 9, 2024
Autosomal recessive DOPA responsive dystonia14Aug 8, 2024
Autosomal recessive ataxia due to ubiquinone deficiency2Nov 14, 2023
Autosomal recessive axonal neuropathy with neuromyotonia1Jun 21, 2023
Autosomal recessive distal renal tubular acidosis4Feb 19, 2024
Autosomal recessive distal spinal muscular atrophy 11Apr 3, 2024
Autosomal recessive hypophosphatemic bone disease2Jun 29, 2024
Autosomal recessive inherited pseudoxanthoma elasticum1Apr 19, 2022
Autosomal recessive juvenile Parkinson disease 23Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy157Aug 8, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2J14Jul 9, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 10, 2022
Autosomal recessive non-syndromic intellectual disability2Oct 2, 2023
Autosomal recessive nonsyndromic hearing loss 18B1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 1A56Aug 8, 2024
Autosomal recessive nonsyndromic hearing loss 223Aug 8, 2024
Autosomal recessive nonsyndromic hearing loss 251Dec 2, 2020
Autosomal recessive nonsyndromic hearing loss 291Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 38Jul 9, 2024
Autosomal recessive nonsyndromic hearing loss 592Aug 8, 2024
Autosomal recessive nonsyndromic hearing loss 791Jul 15, 2022
Autosomal recessive nonsyndromic hearing loss 85Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 84A1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 91Oct 6, 2020
Autosomal recessive polycystic kidney disease109Jul 9, 2024
Autosomal recessive primary microcephaly24Aug 8, 2024
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Aug 25, 2023
Autosomal recessive spastic paraplegia type 761Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 105Aug 8, 2024
Autosomal recessive spinocerebellar ataxia 171Feb 6, 2023
Autosomal recessive spinocerebellar ataxia 182Nov 10, 2022
Autosomal recessive spinocerebellar ataxia 201Oct 27, 2023
Autosomal recessive titinopathy1Jun 21, 2023
Axenfeld-Rieger syndrome type 11Feb 9, 2022
BRSK2-related disorder1Jan 26, 2024
Bailey-Bloch congenital myopathy1Sep 14, 2022
Baller-Gerold syndrome3Sep 1, 2021
Baraitser-Winter syndrome 11Jul 29, 2022
Bardet-Biedl syndrome109Aug 8, 2024
Bardet-Biedl syndrome 104Mar 6, 2020
Bardet-Biedl syndrome 151Jun 29, 2024
Bardet-Biedl syndrome 191Dec 26, 2023
Bardet-Biedl syndrome 23Apr 24, 2019
Bartter syndrome23Aug 8, 2024
Basal cell carcinoma, susceptibility to, 11May 3, 2024
Bernard Soulier syndrome8Jul 9, 2024
Bernard-Soulier syndrome, type A2, autosomal dominant2May 3, 2024
Beta thalassemia intermedia11Oct 2, 2023
Beta-D-mannosidosis15May 5, 2024
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Dec 26, 2023
Beta-thalassemia HBB/LCRB1Feb 19, 2024
Beta-thalassemia major6Apr 19, 2022
Bethlem myopathy 21Nov 14, 2023
Bifunctional peroxisomal enzyme deficiency17Jul 9, 2024
Bilateral frontoparietal polymicrogyria2Oct 2, 2023
Biotin-responsive basal ganglia disease1Apr 14, 2023
Biotinidase deficiency32Aug 8, 2024
Birt-Hogg-Dube syndrome10Apr 3, 2024
Bloom syndrome37Nov 14, 2023
Bohring-Opitz syndrome9Aug 8, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type B11Oct 27, 2023
Brachydactyly type E21Aug 5, 2021
Brain abnormalities, neurodegeneration, and dysosteosclerosis2Jul 9, 2024
Brain small vessel disease 1 with or without ocular anomalies4Jan 26, 2024
Branchiootic syndrome 31Aug 30, 2022
Brittle cornea syndrome 111May 17, 2023
Brittle cornea syndrome 25Apr 14, 2023
Brown-Vialetto-van Laere syndrome 11Feb 6, 2023
Brown-Vialetto-van Laere syndrome 22Jul 25, 2023
Brugada syndrome (shorter-than-normal QT interval)11Jan 26, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 21Dec 26, 2023
C1orf69-related disorder1Feb 6, 2023
C1orf69/IBA57-related disorder1Oct 13, 2022
C2-related disorder1Oct 27, 2023
C3 deficiency1Jun 21, 2023
CC2D2A-related disorder1Aug 8, 2024
CCDC88C-related disorder1Apr 14, 2023
CD36-related disorder4Jul 9, 2024
CEDNIK syndrome1Jul 9, 2024
CEP152-related disorder2Aug 25, 2023
CEP290-related disorder27Jan 26, 2024
CFH-related disorder1May 12, 2022
CHARGE syndrome4Jan 26, 2024
CHD8-related disorder2Oct 2, 2023
CHIME syndrome1Oct 13, 2022
CLCN2-related disorder5Aug 8, 2024
CODAS syndrome1Feb 6, 2023
COG5-congenital disorder of glycosylation3Jun 29, 2024
COG6-ongenital disorder of glycosylation1Feb 9, 2022
COG8-congenital disorder of glycosylation1Mar 11, 2022
COL11A2-related disorder2Apr 3, 2024
COL7A1-related disorder15Apr 3, 2024
COL9A1-related disorder2Sep 14, 2022
CSF3R-Related Disorders1Aug 8, 2024
CUL3-related disorder1Oct 13, 2022
Camptomelic dysplasia1Aug 8, 2024
Canavan Disease, Familial Form30Aug 8, 2024
Capillary malformation-arteriovenous malformation 21Dec 26, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3Jun 29, 2024
Cardiac arrhythmia76Aug 8, 2024
Cardiac valvular defect, developmental2Jul 9, 2024
Cardio-facio-cutaneous syndrome18May 17, 2023
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Jun 21, 2023
Cardiomyopathy144Jul 9, 2024
Cardiomyopathy, dilated, 2D1Jul 25, 2023
Cardiovascular phenotype30Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency18Aug 8, 2024
Carnitine palmitoyl transferase 1A deficiency5Jul 9, 2024
Carnitine palmitoyltransferase II deficiency20Apr 3, 2024
Carpenter syndrome6Jan 26, 2024
Catecholaminergic polymorphic ventricular tachycardia2Apr 27, 2021
Catecholaminergic polymorphic ventricular tachycardia 13Aug 8, 2024
Catel-Manzke syndrome2Jan 11, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Feb 19, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 23Jun 29, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42Jul 9, 2024
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Mar 11, 2022
Cerebral amyloid angiopathy, APP-related2Apr 3, 2024
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebral cavernous malformation 22Dec 26, 2023
Cerebro facio thoracic dysplasia1Nov 14, 2023
Cerebrooculofacioskeletal syndrome 12Aug 25, 2023
Cerebrooculofacioskeletal syndrome 32Nov 10, 2022
Cerebroretinal microangiopathy with calcifications and cysts 19Feb 19, 2024
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Oct 27, 2023
Charcot-Marie-Tooth disease X-linked dominant 13Aug 8, 2024
Charcot-Marie-Tooth disease axonal type 2CC1Jan 11, 2023
Charcot-Marie-Tooth disease axonal type 2S7Aug 8, 2024
Charcot-Marie-Tooth disease axonal type 2T6Jun 29, 2024
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease type 4A5Oct 27, 2023
Charcot-Marie-Tooth disease type 4B11Nov 14, 2023
Charcot-Marie-Tooth disease type 4B21Dec 26, 2023
Charcot-Marie-Tooth disease type 4C3Jul 9, 2024
Charcot-Marie-Tooth disease type 4D1Jun 29, 2024
Charcot-Marie-Tooth disease type 4J4Jul 9, 2024
Charlevoix-Saguenay spastic ataxia42Aug 8, 2024
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Apr 3, 2024
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 10, 2022
Cholestanol storage disease16Jul 9, 2024
Chondrodysplasia punctata, brachytelephalangic, autosomal1Jun 29, 2024
Chorea-acanthocytosis1Jul 25, 2023
Chronic granulomatous disease17Jul 9, 2024
Chuvash polycythemia3Apr 3, 2024
Ciliary dyskinesia, primary, 401Oct 13, 2022
Citrullinemia24Jul 9, 2024
Citrullinemia type I15May 13, 2020
Citrullinemia type II13Aug 8, 2024
Clark-Baraitser syndrome1Feb 19, 2024
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4Apr 14, 2023
Classic lissencephaly1Dec 26, 2023
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease56Aug 8, 2024
Cockayne syndrome27Jun 29, 2024
Coenzyme Q10 deficiency, primary, 12Nov 10, 2022
Coffin-Lowry syndrome2Jul 29, 2022
Coffin-Siris syndrome2May 17, 2023
Coffin-Siris syndrome 11May 5, 2024
Coffin-Siris syndrome 121Jan 26, 2024
Coffin-Siris syndrome 82Feb 6, 2023
Cohen syndrome42Jan 26, 2024
Cold-induced sweating syndrome4Feb 19, 2024
Collagen 6-related myopathy2Jul 15, 2022
Colorectal cancer1Apr 3, 2024
Colorectal carcinoma1Nov 10, 2022
Combined deficiency of sialidase AND beta galactosidase9Jul 9, 2024
Combined immunodeficiency due to DOCK8 deficiency2Feb 19, 2024
Combined immunodeficiency with skin granulomas1Nov 20, 2015
Combined malonic and methylmalonic acidemia14Jul 9, 2024
Combined molybdoflavoprotein enzyme deficiency3Aug 8, 2024
Combined oxidative phosphorylation defect type 111Jul 29, 2022
Combined oxidative phosphorylation defect type 172Aug 25, 2023
Combined oxidative phosphorylation defect type 206Jan 26, 2024
Combined oxidative phosphorylation defect type 242Dec 26, 2023
Combined oxidative phosphorylation defect type 261Jan 11, 2023
Combined oxidative phosphorylation defect type 73May 5, 2024
Combined oxidative phosphorylation deficiency 281Nov 14, 2023
Combined oxidative phosphorylation deficiency 322Jun 28, 2024
Combined oxidative phosphorylation deficiency 361Feb 6, 2023
Combined oxidative phosphorylation deficiency 401Oct 27, 2023
Combined oxidative phosphorylation deficiency 443Aug 8, 2024
Combined pituitary hormone deficiencies, genetic form8Dec 26, 2023
Common variable immunodeficiency4Mar 11, 2022
Complement component C1s deficiency1Aug 8, 2024
Complex cortical dysplasia with other brain malformations 13Aug 8, 2024
Complex cortical dysplasia with other brain malformations 21Jul 25, 2023
Congenital adrenal hyperplasia92Aug 8, 2024
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital afibrinogenemia1Jan 26, 2024
Congenital amegakaryocytic thrombocytopenia18Aug 8, 2024
Congenital bilateral aplasia of vas deferens from CFTR mutation13Aug 8, 2024
Congenital bile acid synthesis defect 21Nov 14, 2023
Congenital bile acid synthesis defect 61Aug 8, 2024
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1Feb 19, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Dec 26, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Jan 26, 2024
Congenital defect of folate absorption2Jun 29, 2024
Congenital disorder of deglycosylation9Jun 29, 2024
Congenital disorder of glycosylation type 1E1May 17, 2023
Congenital disorder of glycosylation with defective fucosylation1May 12, 2022
Congenital disorder of glycosylation, type IIq1Jul 9, 2024
Congenital dyserythropoietic anemia, type I1Aug 8, 2024
Congenital dyserythropoietic anemia, type II4Aug 8, 2024
Congenital factor VII deficiency6Aug 8, 2024
Congenital generalized lipodystrophy2Feb 19, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder3Jun 29, 2024
Congenital heart defects, multiple types, 22Oct 27, 2023
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I34Aug 8, 2024
Congenital isolated adrenocorticotropic hormone deficiency1May 12, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type8Jun 29, 2024
Congenital lipoid adrenal hyperplasia due to STAR deficency10Jul 9, 2024
Congenital long QT syndrome2Mar 6, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome11Oct 27, 2023
Congenital multicore myopathy with external ophthalmoplegia2Feb 6, 2023
Congenital muscular dystrophy due to LMNA mutation1Nov 20, 2015
Congenital muscular hypertrophy-cerebral syndrome1May 17, 2023
Congenital myasthenic syndrome48Jul 9, 2024
Congenital myasthenic syndrome 2C1Nov 10, 2022
Congenital myopathy 231May 12, 2022
Congenital myopathy 2c, severe infantile, autosomal dominant2Jul 9, 2024
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal recessive form20Aug 8, 2024
Congenital nonprogressive myopathy with Moebius and Robin sequences2Jan 26, 2024
Congenital secretory diarrhea, chloride type4Aug 8, 2024
Corneal dystrophy-perceptive deafness syndrome10Aug 8, 2024
Cornelia de Lange syndrome 12Jun 29, 2024
Cornelia de Lange syndrome 53Jan 26, 2024
Cortical dysplasia, complex, with other brain malformations 111Jun 29, 2024
Cortical dysplasia, complex, with other brain malformations 92Nov 14, 2023
Cortical dysplasia-focal epilepsy syndrome5Aug 8, 2024
Costello syndrome7Oct 2, 2023
Cowden syndrome19Jun 29, 2024
Cranioectodermal dysplasia 11Oct 27, 2023
Craniofrontonasal syndrome1May 13, 2020
Creatine transporter deficiency7Nov 14, 2023
Crigler-Najjar syndrome1Oct 27, 2023
Cutaneous porphyria1Jul 25, 2023
Cutis laxa12Jun 29, 2024
Cutis laxa, autosomal recessive, type 1B3Apr 14, 2023
Cystic fibrosis458Aug 8, 2024
Cystic fibrosis-gastritis-megaloblastic anemia syndrome1May 19, 2021
Cystinosis28Apr 3, 2024
Cystinuria2Apr 3, 2024
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
D-Glyceric aciduria2Jan 11, 2023
DGUOK-related disorder4Feb 19, 2024
DHX37-related disorder1Jun 29, 2024
DNA ligase IV deficiency5Jul 9, 2024
DNAJC6-related disorder1Jan 26, 2024
DPAGT1-congenital disorder of glycosylation2Mar 16, 2023
DST-related disorder1Apr 3, 2024
DYNC1H1-related disorder1Jun 21, 2023
DYRK1A-related intellectual disability syndrome1Apr 27, 2021
Danon disease1Jul 29, 2022
DeSanto-Shinawi syndrome due to WAC point mutation2Nov 14, 2023
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 19, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase10Jul 9, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase70Aug 8, 2024
Deficiency of acetyl-CoA acetyltransferase20Aug 25, 2023
Deficiency of alpha-mannosidase29Aug 8, 2024
Deficiency of aromatic-L-amino-acid decarboxylase9Aug 8, 2024
Deficiency of beta-ureidopropionase5Aug 8, 2024
Deficiency of butyryl-CoA dehydrogenase8Apr 3, 2024
Deficiency of butyrylcholinesterase15Apr 3, 2024
Deficiency of cytochrome-b5 reductase2Aug 8, 2024
Deficiency of galactokinase5Jul 25, 2023
Deficiency of guanidinoacetate methyltransferase15Aug 8, 2024
Deficiency of hyaluronoglucosaminidase1Mar 16, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase13Aug 25, 2023
Deficiency of iodide peroxidase8May 3, 2024
Deficiency of ribose-5-phosphate isomerase4Feb 19, 2024
Deficiency of steroid 17-alpha-monooxygenase3Aug 25, 2023
Dent disease3Nov 14, 2023
Desbuquois dysplasia 11Feb 19, 2024
Developmental and epileptic encephalopathy 891Apr 14, 2023
Developmental and epileptic encephalopathy 942Nov 10, 2022
Developmental and epileptic encephalopathy, 11Jan 26, 2024
Developmental and epileptic encephalopathy, 111Aug 8, 2024
Developmental and epileptic encephalopathy, 132Feb 19, 2024
Developmental and epileptic encephalopathy, 251Aug 25, 2023
Developmental and epileptic encephalopathy, 291Dec 26, 2023
Developmental and epileptic encephalopathy, 371Apr 3, 2024
Developmental and epileptic encephalopathy, 42Jul 25, 2023
Developmental and epileptic encephalopathy, 4210Aug 8, 2024
Developmental and epileptic encephalopathy, 481Aug 25, 2023
Developmental and epileptic encephalopathy, 491Jan 11, 2023
Developmental and epileptic encephalopathy, 511Nov 14, 2023
Developmental and epileptic encephalopathy, 541Aug 25, 2023
Developmental and epileptic encephalopathy, 701Apr 3, 2024
Developmental and epileptic encephalopathy, 771Apr 14, 2023
Developmental and epileptic encephalopathy, 91Feb 19, 2024
Developmental delay and seizures with or without movement abnormalities1May 12, 2022
Developmental delay with autism spectrum disorder and gait instability2Jan 26, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair 12Jun 29, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities2Oct 13, 2022
Developmental delay with variable neurologic and brain abnormalities1Oct 27, 2023
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Feb 19, 2024
Developmental delay, impaired speech, and behavioral abnormalities1Oct 2, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jun 21, 2023
Dias-Logan syndrome2Jun 29, 2024
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Jul 9, 2024
Dihydropteridine reductase deficiency8Jul 9, 2024
Dihydropyrimidine dehydrogenase deficiency30Aug 8, 2024
Dominant beta-thalassemia5Aug 25, 2023
Donnai-Barrow syndrome2Oct 13, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dubin-Johnson syndrome4Aug 8, 2024
Dyskeratosis congenita10Aug 25, 2023
EEF1A2-related disorder1Feb 26, 2021
ELOVL4-related disorder3Apr 3, 2024
ENG-related disorder2Oct 27, 2023
ENPP1-related disorder1Oct 27, 2023
ERF-related disorder2Jul 25, 2023
Early Infantile Epileptic Encephalopathy, Autosomal Recessive2Jul 25, 2023
Early infantile epileptic encephalopathy with suppression bursts1Nov 10, 2022
Early-onset coronary artery disease7May 5, 2024
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome4Jul 9, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Apr 3, 2024
Ectodermal dysplasia and immunodeficiency 16Jan 25, 2018
Ehlers-Danlos syndrome12Jul 9, 2024
Ehlers-Danlos syndrome due to tenascin-X deficiency2Jan 26, 2024
Ehlers-Danlos syndrome, classic-like, 21Jun 29, 2024
Ehlers-Danlos syndrome, dermatosparaxis type3Dec 14, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 14Jun 29, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type, 22Oct 27, 2023
Ehlers-Danlos syndrome, musculocontractural type2Oct 22, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 26, 2023
Ehlers-Danlos syndrome, type 49Jun 21, 2023
Eichsfeld type congenital muscular dystrophy16Jun 29, 2024
Elliptocytosis 21Apr 19, 2022
Ellis-van Creveld syndrome9Jun 29, 2024
Emery-Dreifuss muscular dystrophy4May 3, 2024
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 27, 2023
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 13, 2022
Emery-Dreifuss muscular dystrophy 4, autosomal dominant6Jun 29, 2024
Encephalopathy due to GLUT1 deficiency3Jun 29, 2024
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 27, 2023
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Jun 21, 2023
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Nov 14, 2023
Epidermolysis bullosa dystrophica4Oct 2, 2023
Epilepsy, familial focal, with variable foci 13Jul 9, 2024
Epilepsy, familial focal, with variable foci 21Apr 3, 2024
Epilepsy, familial focal, with variable foci 32Apr 14, 2023
Epilepsy, progressive myoclonic, 1B1Dec 26, 2023
Epiphyseal dysplasia, multiple, 21Jan 26, 2024
Episodic ataxia type 11Jul 29, 2022
Episodic kinesigenic dyskinesia 13Dec 26, 2023
Ethylmalonic encephalopathy13Jul 9, 2024
FAM38B-related disorder1Jan 26, 2024
FARS2-related disorder4Jun 29, 2024
FGD1-related disorder1Dec 26, 2023
FGFR1-related disorder2Nov 14, 2023
Fabry disease153Aug 8, 2024
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Dec 21, 2021
Factor I deficiency2Jan 26, 2024
Factor XIII, A subunit, deficiency of3Aug 8, 2024
Familial Atypical Hemolytic-Uremic Syndrome7Apr 3, 2024
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome1Apr 19, 2022
Familial Mediterranean fever26Apr 14, 2023
Familial Mediterranean fever, autosomal dominant1Jun 29, 2024
Familial X-linked hypophosphatemic vitamin D refractory rickets16Apr 3, 2024
Familial adenomatous polyposis 240Jul 9, 2024
Familial aortopathy42Aug 8, 2024
Familial cancer of breast34May 13, 2020
Familial dysautonomia14Jul 9, 2024
Familial dysfibrinogenemia14Aug 8, 2024
Familial ectopia lentis3Feb 6, 2023
Familial exudative vitreoretinopathy2Feb 6, 2023
Familial hemophagocytic lymphohistiocytosis42Aug 8, 2024
Familial hypercholesterolemia157Aug 8, 2024
Familial hyperinsulinism55Jul 9, 2024
Familial hyperthyroidism due to mutations in TSH receptor1Aug 8, 2024
Familial hypoaldosteronism1Oct 2, 2023
Familial hypoalphalipoproteinemia1Aug 8, 2024
Familial hypocalciuric hypercalcemia56Aug 8, 2024
Familial hypokalemia-hypomagnesemia26Aug 8, 2024
Familial hypoparathyroidism3Jan 26, 2024
Familial isolated arrhythmogenic right ventricular dysplasia31Aug 8, 2024
Familial isolated deficiency of vitamin E10Aug 8, 2024
Familial melanoma16Jun 29, 2024
Familial multiple polyposis syndrome96Aug 8, 2024
Familial partial lipodystrophy, Dunnigan type1Jul 25, 2023
Familial prostate cancer9Aug 8, 2024
Familial spontaneous pneumothorax3Apr 24, 2019
Familial temporal lobe epilepsy 71May 17, 2023
Familial thoracic aortic aneurysm and aortic dissection5Feb 19, 2024
Familial thyroid dyshormonogenesis 11Aug 25, 2023
Fanconi anemia76Aug 8, 2024
Fanconi anemia complementation group C30May 3, 2024
Fanconi anemia complementation group J8Jun 29, 2024
Fanconi-Bickel syndrome1Aug 25, 2023
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 33Mar 16, 2023
Filippi syndrome1Jan 26, 2024
Finnish congenital nephrotic syndrome57Aug 8, 2024
Floating-Harbor syndrome1May 17, 2023
Focal segmental glomerulosclerosis 91Jun 21, 2023
Fraser syndrome 116Jan 26, 2024
Friedreich ataxia 12Aug 8, 2024
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Apr 3, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Feb 9, 2022
Fructose-biphosphatase deficiency3Dec 26, 2023
Fucosidosis10Oct 27, 2023
Fumarase deficiency2Aug 8, 2024
G6PD deficiency11Aug 8, 2024
GBE1-related disorder1Jul 25, 2023
GEMIN5-related disorder3Jun 29, 2024
GM1 gangliosidosis23Aug 8, 2024
GM3 synthase deficiency2Jul 9, 2024
GMPPB-related disorder4Nov 14, 2023
GNAS-related disorder1Feb 19, 2024
GNB5-related disorder2Nov 10, 2022
GNE myopathy24Aug 8, 2024
GOSR2-related disorder2Aug 8, 2024
GRACILE syndrome12Jun 29, 2024
GRN-related disorder1Dec 26, 2023
GTP cyclohydrolase I deficiency2Apr 14, 2023
Galactosylceramide beta-galactosidase deficiency48Aug 8, 2024
Galloway-Mowat syndrome 31Jul 9, 2024
Gastrointestinal defect and immunodeficiency syndrome7May 17, 2023
Gaucher disease80Jul 9, 2024
Gaze palsy, familial horizontal, with progressive scoliosis 11Aug 8, 2024
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Genitourinary and/or brain malformation syndrome1Jul 9, 2024
Glanzmann thrombasthenia 13Jun 29, 2024
Glanzmann thrombasthenia 27Aug 8, 2024
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome2Jun 29, 2024
Global developmental delay with speech and behavioral abnormalities1Jun 21, 2023
Glucocorticoid deficiency 11Feb 6, 2023
Glucocorticoid deficiency with achalasia8Jul 9, 2024
Glucose-6-phosphate transport defect30Dec 26, 2023
Glutamate formiminotransferase deficiency1Nov 14, 2023
Glutaric aciduria, type 158Aug 8, 2024
Glutaryl-CoA oxidase deficiency2Nov 14, 2023
Glutathione synthetase deficiency with 5-oxoprolinuria2Jul 9, 2024
Glycogen phosphorylase kinase deficiency21Jul 9, 2024
Glycogen storage disease IIIa7May 19, 2021
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease IXa11Apr 24, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA34Aug 8, 2024
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Apr 14, 2023
Glycogen storage disease type III38Jul 9, 2024
Glycogen storage disease type X2Oct 27, 2023
Glycogen storage disease, type II140Aug 21, 2024
Glycogen storage disease, type IV14Jun 29, 2024
Glycogen storage disease, type V20Jan 26, 2024
Glycogen storage disease, type VI4Oct 2, 2023
Glycogen storage disease, type VII3May 17, 2023
Glycogen storage disorder due to hepatic glycogen synthase deficiency3Jun 21, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Oct 13, 2022
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome3Jan 11, 2023
Granulomatous disease, chronic, X-linked25Aug 8, 2024
Griscelli syndrome type 22Sep 14, 2022
Growth hormone insensitivity syndrome2Nov 14, 2023
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Oct 27, 2023
HK1-related disorder1Aug 25, 2023
HNMT-Related Disorders1Jul 9, 2024
HOXD13-related disorder1Dec 26, 2023
HPRT1-related disorder2Jan 26, 2024
HTRA1-related cerebral small vessel disease2Jul 9, 2024
Harel-Yoon syndrome2Apr 3, 2024
Hearing loss, autosomal recessive 1111Jul 29, 2022
Heart and brain malformation syndrome1Jan 26, 2024
Hemochromatosis type 17Aug 25, 2023
Hemochromatosis type 2A7Feb 19, 2024
Hemochromatosis type 2B1Apr 14, 2023
Hemochromatosis type 31May 17, 2023
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy40Apr 3, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency1Jun 21, 2023
Hennekam lymphangiectasia-lymphedema syndrome 11Apr 3, 2024
Hepatic methionine adenosyltransferase deficiency1Aug 25, 2023
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 15, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 16Nov 14, 2023
Hereditary acrodermatitis enteropathica2Jan 26, 2024
Hereditary antithrombin deficiency2Oct 22, 2021
Hereditary breast ovarian cancer syndrome1525Aug 8, 2024
Hereditary cancer-predisposing syndrome9Jan 25, 2018
Hereditary coproporphyria1May 17, 2023
Hereditary diffuse gastric adenocarcinoma16Jun 29, 2024
Hereditary episodic ataxia1Nov 14, 2023
Hereditary factor IX deficiency disease23Aug 8, 2024
Hereditary factor VIII deficiency disease37Aug 8, 2024
Hereditary factor XI deficiency disease10Aug 8, 2024
Hereditary fructosuria20Aug 25, 2023
Hereditary insensitivity to pain with anhidrosis14Jul 9, 2024
Hereditary leiomyomatosis and renal cell cancer13Aug 8, 2024
Hereditary nonpolyposis colon cancer348Aug 8, 2024
Hereditary pancreatitis21Jun 29, 2024
Hereditary pheochromocytoma-paraganglioma29Jul 9, 2024
Hereditary spastic paraplegia36Aug 8, 2024
Hereditary spastic paraplegia 122Jul 29, 2022
Hereditary spastic paraplegia 151Oct 2, 2023
Hereditary spastic paraplegia 21Dec 26, 2023
Hereditary spastic paraplegia 261Jul 25, 2023
Hereditary spastic paraplegia 301Mar 16, 2023
Hereditary spastic paraplegia 355Jul 9, 2024
Hereditary spastic paraplegia 3A2Jul 25, 2023
Hereditary spastic paraplegia 410Aug 8, 2024
Hereditary spastic paraplegia 451Jul 15, 2022
Hereditary spastic paraplegia 464Jun 29, 2024
Hereditary spastic paraplegia 471Jul 25, 2023
Hereditary spastic paraplegia 481Nov 14, 2023
Hereditary spastic paraplegia 501Dec 26, 2023
Hereditary spastic paraplegia 511Jul 15, 2022
Hereditary spastic paraplegia 542Jul 25, 2023
Hereditary spastic paraplegia 719Aug 8, 2024
Hereditary spastic paraplegia 751Apr 3, 2024
Hereditary von Willebrand disease34Jan 26, 2024
Hermansky-Pudlak syndrome38Jul 9, 2024
Heterotaxy, visceral, 8, autosomal1Aug 8, 2024
Hirschsprung disease, susceptibility to, 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Hogue-Janssens syndrome 12Jan 26, 2024
Holocarboxylase synthetase deficiency14Aug 25, 2023
Holoprosencephaly 51Apr 14, 2023
Holt-Oram syndrome2Jan 26, 2024
Homocystinuria61Aug 8, 2024
Homocystinuria due to methylene tetrahydrofolate reductase deficiency6Jul 9, 2024
Hyaline fibromatosis syndrome3Oct 2, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 21Jan 26, 2024
Hydrolethalus syndrome2Mar 16, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant12Feb 19, 2024
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 16Jun 28, 2024
Hyper-IgM syndrome type 23Jan 26, 2024
Hyper-IgM syndrome type 52Aug 18, 2011
Hyperammonemia, type III1Jul 9, 2024
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2Aug 8, 2024
Hypercalcemia, infantile, 14Jun 29, 2024
Hypercholesterolemia, autosomal dominant, type B1Dec 26, 2023
Hypercholesterolemia, familial, 115Aug 18, 2011
Hyperimmunoglobulin D with periodic fever2Jan 26, 2024
Hyperimmunoglobulin M syndrome1Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 112Oct 27, 2023
Hyperlipoproteinemia, type I9Jul 9, 2024
Hyperlysinemia3Feb 19, 2024
Hypermanganesemia with dystonia 21Jun 21, 2023
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Jul 25, 2023
Hyperornithinemia8Aug 8, 2024
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome6Aug 8, 2024
Hyperphenylalaninemia9Jan 25, 2018
Hyperphosphatasia with intellectual disability syndrome 21Jun 21, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 11, 2023
Hyperproinsulinemia1Sep 14, 2022
Hyperprolinemia type 22Jun 29, 2024
Hypogonadotropic hypogonadism 1 with or without anosmia2Aug 8, 2024
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypogonadotropic hypogonadism 3 with or without anosmia2Nov 14, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia3Jul 9, 2024
Hypogonadotropic hypogonadism 7 with or without anosmia7Aug 8, 2024
Hypogonadotropic hypogonadism 8 with or without anosmia1Nov 14, 2023
Hypohidrotic X-linked ectodermal dysplasia1Mar 11, 2022
Hypokalemic periodic paralysis1Dec 14, 2022
Hypokalemic tubulopathy and deafness1Jun 29, 2024
Hypomyelinating leukodystrophy 103Apr 3, 2024
Hypomyelinating leukodystrophy 121Aug 8, 2024
Hypomyelinating leukodystrophy 21Oct 13, 2022
Hypomyelinating leukodystrophy 32Dec 26, 2023
Hypomyelinating leukodystrophy 62Aug 25, 2023
Hypomyelinating leukodystrophy 91Oct 2, 2023
Hypomyelination and Congenital Cataract3Feb 19, 2024
Hypophosphatasia79Aug 8, 2024
Hypothyroidism due to TSH receptor mutations6Aug 8, 2024
Hypotonia, ataxia, and delayed development syndrome1Nov 14, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Oct 2, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 34Jun 29, 2024
IFN-gamma receptor 1 deficiency1Jan 25, 2018
IFT172-related disorder1Apr 19, 2022
ITGA2B-related disorder2Jul 9, 2024
Ichthyosis linearis circumflexa1Jan 26, 2024
Ichthyosis vulgaris1Feb 9, 2021
Idiopathic basal ganglia calcification 12Dec 14, 2022
Idiopathic growth hormone deficiency5Feb 19, 2024
Idiopathic nephrotic syndrome8Apr 14, 2023
Imerslund-Grasbeck syndrome type 11Oct 27, 2023
Immunodeficiency 106, susceptibility to viral infections1Oct 2, 2023
Immunodeficiency, common variable, 22Aug 18, 2011
Immunodeficiency, common variable, 71Aug 25, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Jan 11, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Apr 14, 2023
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 31, 2020
Incontinentia pigmenti syndrome2Feb 19, 2024
Infantile epileptic dyskinetic encephalopathy3Apr 14, 2023
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 11, 2022
Infantile neuroaxonal dystrophy1Jul 9, 2024
Infantile onset spinocerebellar ataxia1Jun 29, 2024
Inherited glutathione synthetase deficiency10Apr 14, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Aug 30, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder 621Nov 10, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 25, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Jan 26, 2024
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 14, 2023
Intellectual developmental disorder with or without peripheral neuropathy1Jun 29, 2024
Intellectual developmental disorder with seizures and language delay2Oct 27, 2023
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Feb 19, 2024
Intellectual developmental disorder, autosomal recessive 671Mar 16, 2023
Intellectual developmental disorder, autosomal recessive 681Feb 19, 2024
Intellectual developmental disorder, autosomal recessive 691Jun 21, 2023
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly1Oct 2, 2023
Intellectual developmental disorder, autosomal recessive 811Jun 29, 2024
Intellectual disability, X-linked 1024Oct 13, 2022
Intellectual disability, X-linked 1071Jul 29, 2022
Intellectual disability, X-linked 411May 12, 2022
Intellectual disability, X-linked 91Jun 21, 2023
Intellectual disability, X-linked 901Apr 3, 2024
Intellectual disability, X-linked 991Dec 14, 2022
Intellectual disability, X-linked syndromic, Turner type2Aug 25, 2023
Intellectual disability, X-linked, syndromic 331May 17, 2023
Intellectual disability, X-linked, syndromic, Bain type1Jul 29, 2022
Intellectual disability, X-linked, with or without seizures, arx-related4Feb 19, 2024
Intellectual disability, autosomal dominant 141Aug 30, 2022
Intellectual disability, autosomal dominant 201Jul 29, 2022
Intellectual disability, autosomal dominant 241Apr 19, 2022
Intellectual disability, autosomal dominant 391Nov 14, 2023
Intellectual disability, autosomal dominant 401Jun 29, 2024
Intellectual disability, autosomal dominant 431Nov 14, 2023
Intellectual disability, autosomal dominant 451Feb 19, 2024
Intellectual disability, autosomal dominant 471Apr 24, 2019
Intellectual disability, autosomal dominant 52Jun 29, 2024
Intellectual disability, autosomal dominant 522Oct 27, 2023
Intellectual disability, autosomal dominant 61Mar 6, 2020
Intellectual disability, autosomal dominant 81May 12, 2022
Intellectual disability, autosomal dominant 92Jul 15, 2022
Intellectual disability, autosomal recessive 133Aug 8, 2024
Intellectual disability, autosomal recessive 181Feb 9, 2021
Intellectual disability, autosomal recessive 272Dec 26, 2023
Intellectual disability, autosomal recessive 31Jan 11, 2023
Intellectual disability, autosomal recessive 342Jun 29, 2024
Intellectual disability, autosomal recessive 432Jan 11, 2023
Intellectual disability, autosomal recessive 461Dec 31, 2020
Intellectual disability, autosomal recessive 535Aug 8, 2024
Intellectual disability, autosomal recessive 571Jun 29, 2024
Intellectual disability, autosomal recessive 582Aug 8, 2024
Intellectual disability, autosomal recessive 611Jul 9, 2024
Intellectual disability, autosomal recessive 653Jul 9, 2024
Intellectual disability, autosomal recessive 72Dec 26, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 1, 2020
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 7, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Apr 3, 2024
Interferon gamma receptor deficiency6Aug 18, 2011
Interstitial lung disease due to ABCA3 deficiency10Jul 9, 2024
Iodotyrosine deiodination defect2Jul 9, 2024
Isolated growth hormone deficiency, type 42Oct 27, 2023
Isolated thyroid-stimulating hormone deficiency1Aug 8, 2024
Isovaleryl-CoA dehydrogenase deficiency13Aug 8, 2024
Jervell and Lange-Nielsen syndrome2Aug 8, 2024
Joubert syndrome 23Jul 9, 2024
Joubert syndrome 212Dec 26, 2023
Joubert syndrome 263Jul 9, 2024
Joubert syndrome 331Jan 26, 2024
Joubert syndrome 381Apr 19, 2022
Joubert syndrome 63Oct 2, 2023
Joubert syndrome and related disorders155Aug 8, 2024
Junctional epidermolysis bullosa34Jul 9, 2024
Junctional epidermolysis bullosa gravis of Herlitz15May 5, 2024
Junctional epidermolysis bullosa, non-Herlitz type3Mar 6, 2020
Juvenile myoclonic epilepsy1May 5, 2024
Juvenile polyposis syndrome6Jan 11, 2023
Juvenile retinoschisis3Aug 8, 2024
KARS1-related disorder1Dec 26, 2023
KBG syndrome1Apr 3, 2024
KCNQ2-related disorder3Apr 3, 2024
KIF5A-related disorder1Dec 14, 2022
KLHL7-related disorder1Aug 8, 2024
KRIT1-related disorder1Dec 26, 2023
Kabuki syndrome 12Oct 2, 2023
Kabuki syndrome 21Oct 2, 2023
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 23Aug 25, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome5Jun 29, 2024
Knobloch syndrome 12Jun 29, 2024
Koolen-de Vries syndrome1Oct 13, 2022
L-2-hydroxyglutaric aciduria3Nov 14, 2023
L1 syndrome16Aug 8, 2024
LAMA2-related muscular dystrophy23Aug 8, 2024
LARS2-Related Disorders1Aug 8, 2024
LBR-related disorder1Feb 19, 2024
LCAT deficiency1Jul 9, 2024
LIPE-related familial partial lipodystrophy1Jan 26, 2024
LMNB1-related disorder1Jul 9, 2024
Lamellar ichthyosis79Aug 8, 2024
Landau-Kleffner syndrome1May 19, 2021
Larsen syndrome1Sep 14, 2022
Laryngo-onycho-cutaneous syndrome1Jul 15, 2022
Leber congenital amaurosis70Aug 8, 2024
Left ventricular noncompaction1Dec 14, 2022
Legius syndrome2Jul 25, 2023
Leigh syndrome81Aug 8, 2024
Leri-Weill dyschondrosteosis4Nov 14, 2023
Lethal arthrogryposis-anterior horn cell disease syndrome1Jun 21, 2023
Lethal congenital contracture syndrome 111Dec 26, 2023
Lethal congenital contracture syndrome 22Oct 27, 2023
Lethal congenital contracture syndrome 91Jun 29, 2024
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1May 17, 2023
Lethal multiple pterygium syndrome11Jun 29, 2024
Lethal osteosclerotic bone dysplasia1Nov 14, 2023
Leukocyte adhesion deficiency type II1Dec 26, 2023
Leukodystrophy and acquired microcephaly with or without dystonia;1Jul 25, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome5Jul 9, 2024
Leukoencephalopathy with calcifications and cysts3Jun 29, 2024
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2Jan 26, 2024
Leydig cell agenesis1Dec 26, 2023
Li-Fraumeni syndrome31Jul 9, 2024
Lichtenstein-Knorr syndrome1Jan 6, 2022
Liddle syndrome 11Sep 14, 2022
Lipoic acid synthetase deficiency3Jul 9, 2024
Lipoyl transferase 1 deficiency1Jul 9, 2024
Lissencephaly type 33Apr 3, 2024
Loeys-Dietz syndrome18May 5, 2024
Long QT syndrome47Aug 8, 2024
Long QT syndrome 15Sep 24, 2019
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency16Jun 21, 2023
Lung disease, immunodeficiency, and chromosome breakage syndrome;1Jul 9, 2024
Lymphatic malformation 61Aug 25, 2023
Lynch syndrome204May 13, 2020
Lysinuric protein intolerance7Jan 26, 2024
MAN2B2-related disorder1Apr 27, 2021
MBD5 associated neurodevelopmental disorder1Apr 14, 2023
MECP2-related disorder1Aug 25, 2023
MED12-related disorder1Sep 14, 2022
MEDNIK syndrome1Jan 26, 2024
MEN2 phenotype: Unclassified5May 17, 2023
MFN2-related disorder2Nov 14, 2023
MHC class I deficiency2Jul 25, 2023
MHC class II deficiency9Oct 27, 2023
MPI-congenital disorder of glycosylation4May 17, 2023
MPZ-related disorder3Aug 8, 2024
MTFMT-Related Disorders1Jul 9, 2024
MUSK-related disorder1Jan 26, 2024
MYH3-related disorder5Feb 19, 2024
MYO6-related disorder1Nov 14, 2023
MYO7A-related disorder2Jun 29, 2024
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Macrocephaly, dysmorphic facies, and psychomotor retardation2Jul 9, 2024
Macrocephaly-developmental delay syndrome1Aug 25, 2023
Macrocephaly/megalencephaly syndrome, autosomal recessive1Apr 3, 2024
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss3Dec 26, 2023
Macrothrombocytopenia, isolated, 1, autosomal dominant3Apr 3, 2024
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Jan 11, 2023
Macular corneal dystrophy5Aug 8, 2024
Majeed syndrome1Jul 15, 2022
Malan overgrowth syndrome2Mar 6, 2020
Malignant hyperthermia of anesthesia14Aug 8, 2024
Malignant tumor of breast96Aug 8, 2024
Maple syrup urine disease44Aug 8, 2024
Maple syrup urine disease type 1A7Apr 7, 2021
Maple syrup urine disease type 1B12Aug 25, 2023
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections161Aug 8, 2024
Marfan syndrome83Nov 27, 2018
Marinesco-Sjögren syndrome2Dec 26, 2023
Maturity onset diabetes mellitus in young34Aug 8, 2024
Maturity-onset diabetes of the young type 120Nov 17, 2015
Maturity-onset diabetes of the young type 2109Aug 8, 2024
Maturity-onset diabetes of the young type 336Nov 17, 2015
Maturity-onset diabetes of the young type 49Aug 18, 2011
Maturity-onset diabetes of the young type 81Aug 18, 2011
Meckel syndrome, type 17Apr 3, 2024
Meckel syndrome, type 411Feb 19, 2024
Meckel syndrome, type 67Jun 29, 2024
Medium-chain acyl-coenzyme A dehydrogenase deficiency50Aug 8, 2024
Megaconial type congenital muscular dystrophy1Aug 25, 2023
Megalencephalic leukoencephalopathy with subcortical cysts11Aug 8, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1Aug 25, 2023
Meier-Gorlin syndrome 41May 17, 2023
Melanoma, cutaneous malignant, susceptibility to, 81Aug 8, 2024
Menke-Hennekam syndrome1Aug 30, 2022
Menkes kinky-hair syndrome6Apr 3, 2024
Metachromatic leukodystrophy61Jul 9, 2024
Metaphyseal anadysplasia 1, autosomal dominant1Jul 29, 2022
Metaphyseal chondrodysplasia, McKusick type62Aug 8, 2024
Metaphyseal chondrodysplasia, Schmid type1May 3, 2024
Methylcobalamin deficiency type cblE1Aug 25, 2023
Methylcobalamin deficiency type cblG1Dec 26, 2023
Methylcrotonyl-CoA carboxylase deficiency23Aug 8, 2024
Methylmalonic acidemia93Aug 8, 2024
Mevalonic aciduria1Aug 8, 2024
Microcephalic osteodysplastic primordial dwarfism type II1Jan 26, 2024
Microcephalic primordial dwarfism due to RTTN deficiency2Dec 26, 2023
Microcephalic primordial dwarfism, Alazami type1Jun 29, 2024
Microcephaly 14, primary, autosomal recessive2Apr 3, 2024
Microcephaly 20, primary, autosomal recessive2Jul 25, 2023
Microcephaly 21, primary, autosomal recessive1Feb 9, 2022
Microcephaly 3, primary, autosomal recessive2Apr 3, 2024
Microcephaly 6, primary, autosomal recessive1Feb 6, 2023
Microcephaly 7, primary, autosomal recessive1May 12, 2022
Microcephaly, developmental delay, and brittle hair syndrome1Oct 27, 2023
Microcephaly, normal intelligence and immunodeficiency26May 5, 2024
Microcephaly, short stature, and limb abnormalities1May 12, 2022
Microcephaly-capillary malformation syndrome1Nov 14, 2023
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome3Jun 29, 2024
Microspherophakia1Jan 6, 2022
Miller syndrome1Aug 25, 2023
Mismatch repair cancer syndrome 12Mar 6, 2020
Mitochondrial DNA depletion syndrome31Aug 8, 2024
Mitochondrial DNA depletion syndrome 15Jun 29, 2024
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2Aug 25, 2023
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2Jul 9, 2024
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Aug 25, 2023
Mitochondrial complex 1 deficiency, nuclear type 172Jun 29, 2024
Mitochondrial complex 1 deficiency, nuclear type 193Feb 19, 2024
Mitochondrial complex 1 deficiency, nuclear type 22Feb 19, 2024
Mitochondrial complex 1 deficiency, nuclear type 213Dec 26, 2023
Mitochondrial complex 1 deficiency, nuclear type 221Aug 30, 2022
Mitochondrial complex 1 deficiency, nuclear type 251Jul 15, 2022
Mitochondrial complex 1 deficiency, nuclear type 292Jan 11, 2023
Mitochondrial complex 1 deficiency, nuclear type 313Apr 14, 2023
Mitochondrial complex 1 deficiency, nuclear type 321Apr 19, 2022
Mitochondrial complex 1 deficiency, nuclear type 341Jun 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 71Aug 30, 2022
Mitochondrial complex 4 deficiency, nuclear type 112Jun 21, 2023
Mitochondrial complex 4 deficiency, nuclear type 31Apr 19, 2022
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial complex I deficiency14Jul 9, 2024
Mitochondrial complex III deficiency nuclear type 21Oct 2, 2023
Mitochondrial complex III deficiency nuclear type 51Jun 21, 2023
Mitochondrial complex IV deficiency, nuclear type 11Oct 2, 2023
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22Feb 6, 2023
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Jan 26, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Aug 8, 2024
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Oct 2, 2023
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Aug 25, 2023
Mitochondrial trifunctional protein deficiency15Jul 9, 2024
Mitochondrial trifunctional protein deficiency 21Oct 27, 2023
Monogenic diabetes58Aug 8, 2024
Morquio syndrome44Jul 9, 2024
Mosaic variegated aneuploidy syndrome 11Aug 8, 2024
Mowat-Wilson syndrome1Jan 6, 2022
Mucolipidosis28Aug 8, 2024
Mucolipidosis type II7Feb 6, 2023
Mucolipidosis type IV14Jun 28, 2024
Mucopolysaccharidosis type 160Aug 8, 2024
Mucopolysaccharidosis type 630Aug 8, 2024
Mucopolysaccharidosis type 711Aug 8, 2024
Mucopolysaccharidosis, MPS-II14Aug 8, 2024
Mucopolysaccharidosis, MPS-III-A29Aug 8, 2024
Mucopolysaccharidosis, MPS-III-B34Aug 8, 2024
Mucopolysaccharidosis, MPS-III-D2Jun 21, 2023
Mucopolysaccharidosis, MPS-IV-B17Aug 8, 2024
Multiple acyl-CoA dehydrogenase deficiency30Aug 8, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 15Aug 8, 2024
Multiple congenital exostosis1Apr 24, 2019
Multiple endocrine neoplasia type 2A8Jun 21, 2023
Multiple endocrine neoplasia type 2B1Sep 1, 2021
Multiple endocrine neoplasia, type 148Aug 8, 2024
Multiple endocrine neoplasia, type 25Nov 14, 2023
Multiple mitochondrial dysfunctions syndrome 11Oct 27, 2023
Multiple mitochondrial dysfunctions syndrome 21Aug 25, 2023
Multiple mitochondrial dysfunctions syndrome 41Oct 2, 2023
Multiple sulfatase deficiency14Aug 8, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 413Aug 8, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Jan 26, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Jul 25, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Feb 9, 2022
Myasthenic syndrome, congenital, 222Jul 9, 2024
Myoclonic dystonia 112Dec 26, 2023
Myofibrillar myopathy 31Apr 3, 2024
Myofibrillar myopathy 71Oct 2, 2023
Myopathy with abnormal lipid metabolism1Aug 8, 2024
Myopathy, RYR1-associated6Aug 8, 2024
Myopathy, centronuclear, 51Jul 9, 2024
Myopathy, lactic acidosis, and sideroblastic anemia 12Dec 14, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 21Nov 14, 2023
Myopathy, proximal, and ophthalmoplegia2Dec 26, 2023
NOTCH3-related disorder2Jul 25, 2023
NPHP1-related disorder1Jun 29, 2024
NPR2-related disorder3Apr 3, 2024
NR3C2-related disorder1Apr 3, 2024
NUP214-related disorder1May 17, 2023
Nemaline myopathy85Apr 3, 2024
Neonatal diabetes mellitus22Nov 17, 2015
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1Jul 25, 2023
Neonatal severe primary hyperparathyroidism3Jul 9, 2024
Nephrogenic diabetes insipidus24May 3, 2024
Nephronophthisis 131Dec 21, 2021
Nephronophthisis 152Nov 14, 2023
Nephronophthisis 31Dec 21, 2021
Nephronophthisis 41Mar 6, 2020
Nephronophthisis-like nephropathy 11Aug 8, 2024
Nephrotic syndrome, type 216Nov 16, 2021
Nephrotic syndrome, type 91Feb 19, 2024
Neurodegeneration with ataxia and late-onset optic atrophy6Jul 9, 2024
Neurodegeneration with brain iron accumulation45Aug 8, 2024
Neurodegeneration with brain iron accumulation 51Mar 6, 2020
Neurodegeneration, infantile-onset, biotin-responsive1Jan 11, 2023
Neurodevelopmental disorder1Mar 6, 2020
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Apr 14, 2023
Neurodevelopmental disorder with absent language and variable seizures2Jun 21, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3Feb 19, 2024
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities1Dec 26, 2023
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures1Jul 9, 2024
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Nov 14, 2023
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1May 17, 2023
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Jun 29, 2024
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies1Jul 9, 2024
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1Jul 9, 2024
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Aug 8, 2024
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy3Aug 8, 2024
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 14, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 11, 2022
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1Feb 19, 2024
Neurodevelopmental disorder with speech delay and variable ocular anomalies1Dec 26, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Aug 8, 2024
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Jul 9, 2024
Neurofibromatosis, type 142Aug 8, 2024
Neurofibromatosis, type 23Feb 26, 2021
Neuronal ceroid lipofuscinosis115Aug 8, 2024
Neuronal ceroid lipofuscinosis 15Mar 6, 2020
Neuronal ceroid lipofuscinosis 21Apr 29, 2020
Neuronal ceroid lipofuscinosis 35Mar 6, 2020
Neuronal ceroid lipofuscinosis 51Mar 6, 2020
Neuronal ceroid lipofuscinosis 84Jun 29, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 44Aug 8, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 81Dec 21, 2021
Neuropathy, congenital hypomyelinating, 31Oct 27, 2023
Neuropathy, hereditary sensory and autonomic, type 2B1Oct 2, 2023
Neuropathy, hereditary sensory, type 2C1Oct 6, 2020
Neutral 1 amino acid transport defect5Feb 19, 2024
Neutral lipid storage myopathy1Oct 27, 2023
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A18Jan 11, 2023
Niemann-Pick disease, type B8Jun 28, 2024
Niemann-Pick disease, type C87Aug 8, 2024
Nijmegen breakage syndrome-like disorder2Feb 9, 2021
Non-ketotic hyperglycinemia51Aug 8, 2024
Non-syndromic X-linked intellectual disability1Oct 22, 2020
Nonsyndromic Deafness1Mar 6, 2020
Nonsyndromic genetic hearing loss54Aug 8, 2024
Noonan syndrome4Sep 24, 2019
Noonan syndrome 27Jul 9, 2024
Noonan syndrome 320Sep 24, 2019
Noonan syndrome with multiple lentigines4Feb 6, 2023
Noonan syndrome-like disorder with loose anagen hair1Sep 1, 2021
O'Donnell-Luria-Rodan syndrome3Oct 27, 2023
OPA1-related disorder4Jun 29, 2024
OPTN-related disorder1Dec 26, 2023
Obesity10Nov 17, 2015
Occipital pachygyria and polymicrogyria3Jul 9, 2024
Ocular albinism, type I1Aug 8, 2024
Oculocutaneous albinism31Aug 8, 2024
Oculocutaneous albinism type 32Aug 8, 2024
Oculocutaneous albinism type 44Aug 8, 2024
Oculocutaneous albinism type 81Jun 29, 2024
Odonto-onycho-dermal dysplasia2Jun 29, 2024
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1Aug 25, 2023
Ornithine carbamoyltransferase deficiency21Aug 8, 2024
Orofaciodigital syndrome I1Nov 14, 2023
Orofaciodigital syndrome type 145Aug 8, 2024
Orofaciodigital syndrome type 61Jul 29, 2022
Oroticaciduria1Jun 29, 2024
Orthostatic hypotension 11Jan 26, 2024
Osteochondrodysplasia4Feb 19, 2024
Osteogenesis imperfecta102Aug 8, 2024
Osteogenesis imperfecta type 51Jul 25, 2023
Osteopetrosis9Apr 14, 2023
Osteopetrosis with renal tubular acidosis1Jan 26, 2024
Osteoporosis with pseudoglioma2Oct 2, 2023
Otofaciocervical syndrome 21Jul 9, 2024
PALB2-related disorder1Feb 9, 2022
PARN-related disorder1Apr 3, 2024
PAX2-related disorder2Feb 19, 2024
PDE8B-Related Disorders1Jun 29, 2024
PDX1-related disorder2Jun 21, 2023
PDZD7-related disorder1Mar 16, 2023
PEX5-related disorder1Aug 8, 2024
PGM1-congenital disorder of glycosylation2Jan 26, 2024
PHARC syndrome1Feb 19, 2024
PHGDH deficiency7Jan 26, 2024
PI4KA-related disorder2Oct 2, 2023
PIEZO2-related disorder4Feb 19, 2024
PIK3CA related overgrowth syndrome2Jul 29, 2022
PLEC-related disorder1May 17, 2023
PMM2-congenital disorder of glycosylation61Jul 9, 2024
PNKP-related disorder3Aug 8, 2024
PNPLA6-related disorder2Jun 21, 2023
PNPT1-related disorder4Jun 29, 2024
POLG-Related Spectrum Disorders17Jul 9, 2024
POLG2-related disorder2Oct 2, 2023
POLR1C-related disorder3Oct 27, 2023
POLR3-related leukodystrophy3May 5, 2024
PPARG-related disorder1Dec 14, 2022
PRNP-related disorder2Feb 19, 2024
PRPH2-related disorder1Dec 26, 2023
PRX-related disorder1Jun 29, 2024
PSAT1-related disorder3Apr 3, 2024
PTEN hamartoma tumor syndrome1Dec 31, 2020
PTPN4-related disorder1Apr 3, 2024
PUM1-related disorder1Dec 26, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 6, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Mar 16, 2023
Papillon-Lefèvre syndrome3Oct 2, 2023
Parathyroid carcinoma2May 17, 2023
Parietal foramina 21Jul 15, 2022
Pendred syndrome50Aug 8, 2024
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1Oct 2, 2023
Periventricular nodular heterotopia1May 3, 2024
Periventricular nodular heterotopia 61Jul 15, 2022
Periventricular nodular heterotopia 91Jan 11, 2023
Permanent neonatal diabetes mellitus2Aug 8, 2024
Peroxisome biogenesis disorder112Aug 8, 2024
Persistent Mullerian duct syndrome1Oct 2, 2023
Peters plus syndrome2Jul 15, 2022
Pettigrew syndrome1Jul 9, 2024
Peutz-Jeghers syndrome14Jun 21, 2023
Phenylketonuria189Aug 8, 2024
Pheochromocytoma2Feb 9, 2022
Phytanic acid storage disease1Aug 8, 2024
Pierson syndrome1Oct 27, 2023
Pigmentary pallidal degeneration14Jan 26, 2024
Pilarowski-Bjornsson syndrome2May 5, 2024
Pili torti-deafness syndrome3Jul 9, 2024
Pili torti-developmental delay-neurological abnormalities syndrome1Sep 14, 2022
Pitt-Hopkins syndrome1Mar 16, 2023
Pitt-Hopkins-like syndrome 23Jun 29, 2024
Plasminogen deficiency, type I1Jan 26, 2024
Platelet-type bleeding disorder 151Mar 16, 2023
Poikiloderma with neutropenia1Jun 29, 2024
Poirier-Bienvenu neurodevelopmental syndrome1Jan 11, 2023
Pol III-related leukodystrophy5Jun 29, 2024
Polycystic kidney disease 26Jul 9, 2024
Polycystic kidney disease, adult type20Jun 29, 2024
Polyglandular autoimmune syndrome, type 124Jul 9, 2024
Polyglucosan body myopathy type 11Oct 2, 2023
Polyglucosan body myopathy type 23Nov 14, 2023
Pontocerebellar hypoplasia type 31Jun 21, 2023
Pontocerebellar hypoplasia, type 1D1Nov 10, 2022
Pontoneocerebellar hypoplasia49Aug 8, 2024
Porencephaly 22Jan 11, 2023
Portal hypertension, noncirrhotic, 21Feb 19, 2024
Posterior column ataxia-retinitis pigmentosa syndrome2Oct 27, 2023
Postmenopausal osteoporosis2Aug 18, 2011
Pretibial dystrophic epidermolysis bullosa1Mar 6, 2020
Primary ciliary dyskinesia 141Jun 29, 2024
Primary ciliary dyskinesia 171Jun 29, 2024
Primary ciliary dyskinesia 21Jan 6, 2022
Primary ciliary dyskinesia 32Oct 2, 2023
Primary ciliary dyskinesia 91Aug 25, 2023
Primary congenital glaucoma20Jul 9, 2024
Primary dilated cardiomyopathy7Nov 20, 2015
Primary familial dilated cardiomyopathy50Aug 8, 2024
Primary familial hypertrophic cardiomyopathy84Apr 3, 2024
Primary hyperoxaluria40Aug 8, 2024
Primary hyperoxaluria type 38Jun 21, 2023
Primary hyperoxaluria, type II9May 5, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 33Aug 8, 2024
Progressive familial intrahepatic cholestasis43Aug 8, 2024
Progressive myoclonic epilepsy type 71Oct 27, 2023
Progressive pseudorheumatoid dysplasia8Jun 29, 2024
Prolidase deficiency1Aug 8, 2024
Proline dehydrogenase deficiency2Dec 26, 2023
Propionic acidemia60Jul 9, 2024
Proteasome-associated autoinflammatory syndrome 11Oct 13, 2022
Protoporphyria, erythropoietic, 11Jul 25, 2023
Proximal myopathy with extrapyramidal signs3Jul 9, 2024
Pseudo-Hurler polydystrophy1Jan 25, 2018
Pseudo-TORCH syndrome 21Jun 21, 2023
Pseudoxanthoma elasticum1Jul 9, 2024
Pyknodysostosis4Jul 9, 2024
Pyridoxal phosphate-responsive seizures9Aug 8, 2024
Pyridoxine-dependent epilepsy16Jul 9, 2024
Pyruvate carboxylase deficiency1Feb 19, 2024
Pyruvate dehydrogenase E1-beta deficiency2Nov 14, 2023
Pyruvate dehydrogenase E3 deficiency7May 17, 2023
Pyruvate dehydrogenase E3-binding protein deficiency3Jun 29, 2024
Pyruvate dehydrogenase complex deficiency3Jun 29, 2024
Pyruvate kinase deficiency of red cells1Dec 26, 2023
Qualitative or quantitative defects of dystrophin157Aug 8, 2024
Quebec platelet disorder1Oct 13, 2022
RAB3GAP1-related disorder2Oct 27, 2023
RAB3GAP2-related disorder1Nov 10, 2022
RASopathy112Aug 8, 2024
RECQL4-related disorder3Oct 27, 2023
RYR1-related disorder2Aug 25, 2023
Radial aplasia-thrombocytopenia syndrome3Jul 25, 2023
Radio-Tartaglia syndrome1Nov 14, 2023
Rapadilino syndrome3Sep 1, 2021
Recessive dystrophic epidermolysis bullosa5Jul 9, 2024
Renal carnitine transport defect55Aug 8, 2024
Renal cysts and diabetes syndrome20Aug 18, 2011
Renal hypodysplasia/aplasia 32Oct 2, 2023
Renal tubular acidosis with progressive nerve deafness7Oct 27, 2023
Renal-hepatic-pancreatic dysplasia 22Aug 8, 2024
Retinal dystrophy8Aug 8, 2024
Retinitis pigmentosa110Aug 8, 2024
Retinitis pigmentosa 432Jun 29, 2024
Retinitis pigmentosa 592Oct 13, 2022
Retinitis pigmentosa 731Aug 25, 2023
Retinoblastoma2Jul 29, 2022
Rett syndrome45Jul 9, 2024
Rett syndrome, congenital variant1Jul 29, 2022
Rh deficiency syndrome1Oct 27, 2023
Rhizomelic chondrodysplasia punctata3Aug 25, 2023
Rhizomelic chondrodysplasia punctata type 118Aug 8, 2024
Rippling muscle disease 22Apr 14, 2023
Ritscher-Schinzel syndrome 11Jun 29, 2024
Roberts-SC phocomelia syndrome1May 17, 2023
Roifman syndrome3Jun 29, 2024
Rothmund-Thomson syndrome type 23Sep 1, 2021
Rothmund-Thomson syndrome, type 31Aug 30, 2022
Rotor syndrome2Jan 11, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations2Oct 27, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Jul 29, 2022
SAMD9L-related disorder1Mar 16, 2023
SCOTT SYNDROME1Apr 14, 2023
SEC23B-related disorder1Apr 19, 2022
SHH-related disorder1Feb 6, 2023
SHORT syndrome1Mar 6, 2020
SHOX-related short stature3Nov 17, 2015
SHQ1-related disorder1Jun 29, 2024
SIM1-related disorder1Dec 2, 2020
SIN3A-related intellectual disability syndrome1Nov 14, 2023
SLC12A2-related disorder1May 17, 2023
SLC16A1-related disorder3Jun 29, 2024
SYNE1-related disorder3Apr 3, 2024
Salla disease14Oct 2, 2023
Sandhoff disease38Jul 9, 2024
Sanfilippo syndrome26Oct 2, 2023
Schaaf-Yang syndrome1Jul 15, 2022
Schimke immuno-osseous dysplasia1Jul 9, 2024
Schwannomatosis5Jul 9, 2024
Schwartz-Jampel syndrome type 11Oct 27, 2023
Seckel syndrome 11Aug 8, 2024
Seckel syndrome 61Oct 2, 2023
Seckel syndrome 71Feb 6, 2023
Severe X-linked myotubular myopathy7Nov 14, 2023
Severe combined immunodeficiency disease136Aug 8, 2024
Severe combined immunodeficiency due to IKK2 deficiency1Apr 19, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 6, 2020
Severe congenital neutropenia3Mar 16, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Apr 14, 2023
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Dec 26, 2023
Severe intellectual disability-progressive spastic diplegia syndrome4Aug 25, 2023
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature, microcephaly, and endocrine dysfunction1Dec 14, 2022
Short stature-brachydactyly-obesity-global developmental delay syndrome4Apr 3, 2024
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Jun 29, 2024
Short-rib thoracic dysplasia 11 with or without polydactyly2Jun 29, 2024
Short-rib thoracic dysplasia 19 with or without polydactyly1Jan 26, 2024
Shprintzen-Goldberg syndrome1May 12, 2022
Shwachman-Diamond syndrome 12Apr 3, 2024
Sialidosis13May 5, 2024
Sickle cell disease and related diseases1Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Sitosterolemia 11Apr 19, 2022
Sjögren-Larsson syndrome26Jul 9, 2024
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Apr 29, 2020
Smith-Lemli-Opitz syndrome46Aug 8, 2024
Smith-Magenis syndrome3Dec 26, 2023
Sotos syndrome4Jul 9, 2024
Spastic ataxia 31Jun 29, 2024
Spastic paraplegia 85, autosomal recessive1Apr 14, 2023
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Apr 3, 2024
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2Oct 2, 2023
Sphingomyelin/cholesterol lipidosis24Aug 8, 2024
Spinal muscular atrophy7Oct 2, 2023
Spinal muscular atrophy with lower extremity predominance1Jun 29, 2024
Spinocerebellar ataxia 452May 5, 2024
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 111Aug 25, 2023
Spinocerebellar ataxia type 19/222Oct 27, 2023
Spinocerebellar ataxia type 271Nov 10, 2022
Spinocerebellar ataxia type 282Jul 9, 2024
Spinocerebellar ataxia type 292Jul 9, 2024
Spinocerebellar ataxia type 351Sep 14, 2022
Spinocerebellar ataxia type 52Dec 14, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Aug 25, 2023
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Spondylocostal dysostosis 2, autosomal recessive2Jun 21, 2023
Spondyloepimetaphyseal dysplasia, Genevieve type1Jan 26, 2024
Spondyloperipheral dysplasia1Jul 29, 2022
Stargardt disease16Aug 8, 2024
Steel syndrome3Jun 29, 2024
Stickler syndrome1Apr 29, 2020
Structural heart defects and renal anomalies syndrome1Jun 29, 2024
Stuve-Wiedemann syndrome1Apr 14, 2023
Stüve-Wiedemann syndrome 11Apr 19, 2022
Succinate-semialdehyde dehydrogenase deficiency4Oct 2, 2023
Sucrase-isomaltase deficiency3Nov 14, 2023
Sudden cardiac failure, infantile2Sep 14, 2022
Suleiman-El-Hattab syndrome1Jan 11, 2023
Sulfate transporter-related osteochondrodysplasia18Jan 11, 2023
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2Jun 21, 2023
Sulfocysteinuria9Aug 8, 2024
Supravalvar aortic stenosis1Dec 2, 2020
Syndromic X-linked intellectual disability 343Apr 3, 2024
Syndromic X-linked intellectual disability Claes-Jensen type1Jul 15, 2022
Syndromic X-linked intellectual disability Hedera type1Aug 8, 2024
Syndromic X-linked intellectual disability Snyder type1Jun 29, 2024
TAFAZZIN-related disorder1Apr 14, 2023
TARP syndrome1Feb 6, 2023
TBC1D24-related disorder3Apr 3, 2024
TBCE-related disorder2Oct 13, 2022
TELO2-related intellectual disability-neurodevelopmental disorder1Jun 29, 2024
TFG-related disorder1Dec 26, 2023
TG-related disorder7Jul 9, 2024
TOP3A-related disorder1Feb 19, 2024
TOR1A-related disorder1Aug 8, 2024
TRIO-related disorder2Oct 27, 2023
TRIP4-related disorder2Oct 2, 2023
TRNT1-related disorder3Oct 2, 2023
Tangier disease1Feb 19, 2024
Tay-Sachs disease71Aug 8, 2024
Temtamy syndrome1Oct 13, 2022
Testosterone 17-beta-dehydrogenase deficiency4Aug 8, 2024
Thanatophoric dysplasia1Jul 25, 2023
Thrombocytopenia 15Apr 14, 2023
Thrombocytopenia 21Jul 15, 2022
Thrombocytopenia 41Jun 29, 2024
Thrombocytopenia 52Jun 29, 2024
Thrombocytopenia, anemia, and myelofibrosis1Jul 9, 2024
Thrombophilia due to thrombin defect1Mar 16, 2023
Thrombotic thrombocytopenic purpura3Jul 9, 2024
Thyroglobulin synthesis defect2Oct 2, 2023
Thyroid dyshormonogenesis 65Aug 8, 2024
Thyroid hormone metabolism, abnormal 11Oct 2, 2023
Thyroid hormone resistance, generalized, autosomal dominant20Aug 8, 2024
Treacher Collins syndrome 12Jun 29, 2024
Trichohepatoenteric syndrome18Jan 26, 2024
Trichothiodystrophy2Feb 19, 2024
Trimethylaminuria9Jul 9, 2024
Tuberous sclerosis syndrome14Jul 9, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 11Nov 14, 2023
Type II complement component 8 deficiency1Apr 3, 2024
Tyrosinase-positive oculocutaneous albinism1Sep 14, 2022
Tyrosinemia type I22Aug 8, 2024
Tyrosinemia type II3Aug 25, 2023
Tyrosinemia type III5May 5, 2024
UBA5-related disorder1Aug 25, 2023
UDPglucose-4-epimerase deficiency6May 3, 2024
UROD-related disorder2Feb 19, 2024
Ullrich congenital muscular dystrophy 1A5Feb 19, 2024
Uncombable hair syndrome 31May 17, 2023
Unverricht-Lundborg syndrome1Oct 13, 2022
Usher syndrome177Aug 8, 2024
Usher syndrome type 1F26Jun 29, 2024
Usher syndrome type 34Apr 24, 2019
VAMP1-related disorder1Jun 29, 2024
VSX2-related Microphthalmia2Jul 9, 2024
Vanishing white matter disease28Jul 9, 2024
Vasculitis due to ADA2 deficiency4Aug 8, 2024
Very long chain acyl-CoA dehydrogenase deficiency53Aug 8, 2024
Vici syndrome3Apr 3, 2024
Vitamin D hydroxylation-deficient rickets, type 1B1Feb 6, 2023
Vitamin D-dependent rickets type II with alopecia2Aug 8, 2024
Vitamin D-dependent rickets, type 1A5Aug 8, 2024
Von Hippel-Lindau syndrome68Feb 19, 2024
WARS2-related disorder2Aug 25, 2023
WDR35-related disorder2Jun 29, 2024
WDR4-related disorder2Aug 8, 2024
Waardenburg syndrome type 21Feb 19, 2024
Waardenburg syndrome type 2E2Mar 16, 2023
Waardenburg syndrome type 4A1Jun 29, 2024
Warsaw breakage syndrome2Nov 14, 2023
Werner syndrome7Jan 26, 2024
Wiedemann-Steiner syndrome1Feb 19, 2024
Wilms tumor 11May 17, 2023
Wilson disease187Aug 8, 2024
Wiskott-Aldrich syndrome19Jul 9, 2024
Wolcott-Rallison dysplasia1Dec 26, 2023
Wolfram syndrome 19Aug 8, 2024
Wolfram syndrome 21Jul 25, 2023
Wolman disease11Aug 8, 2024
X-linked Alport syndrome25Aug 8, 2024
X-linked Opitz G/BBB syndrome2Jul 9, 2024
X-linked agammaglobulinemia35May 3, 2024
X-linked intellectual disability, Cantagrel type2Apr 19, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Jan 11, 2023
X-linked lymphoproliferative syndrome2Apr 24, 2019
X-linked severe combined immunodeficiency14Jul 29, 2022
X-linked severe congenital neutropenia1Dec 31, 2020
Xeroderma pigmentosum79Jul 9, 2024
YTHDF3-related disorder1Jun 21, 2023
Yoon-Bellen neurodevelopmental syndrome1May 17, 2023
alpha Thalassemia10Aug 8, 2024
beta Thalassemia96Aug 8, 2024
not provided2602Jan 25, 2018
not specified35608Aug 21, 2024
von Willebrand disorder7Aug 8, 2024