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Genes and mapped phenotypes

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See also 34 discontinued or replaced items.

Name/Gene ID	Description	Location	Aliases	MIM
Select item 8291 DYSF ID: 8291	dysferlin [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (71453561..71686763)	FER1L1, LGMD2B, LGMDR2, MMD1	603009
Select item 2218 FKTN ID: 2218	fukutin [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (105558130..105641118)	CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4	607440
Select item 4000 LMNA ID: 4000	lamin A/C [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (156082573..156140081)	CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1	150330
Select item 3106 HLA-B ID: 3106	major histocompatibility complex, class I, B [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (31353875..31357179, complement)	AS, B-4901, HLAB	142830
Select item 6443 SGCB ID: 6443	sarcoglycan beta [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (52020706..52038299, complement)	A3b, LGMD2E, LGMDR4, SGC	600900
Select item 1756 DMD ID: 1756	dystrophin [Homo sapiens (human)]	Chromosome X, NC_000023.11 (31119222..33339388, complement)	BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85	300377
Select item 7273 TTN ID: 7273	titin [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (178525989..178807423, complement)	CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD	188840
Select item 23534 TNPO3 ID: 23534	transportin 3 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (128954185..129056193, complement)	IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR	610032
Select item 8557 TCAP ID: 8557	titin-cap [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (39665349..39666554)	CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin	604488
Select item 9987 HNRNPDL ID: 9987	heterogeneous nuclear ribonucleoprotein D like [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (82422564..82430462, complement)	HNRNP, HNRPDL, JKTBP, JKTBP2, LGMD1G, LGMDD3, laAUF1	607137
Select item 6442 SGCA ID: 6442	sarcoglycan alpha [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (50166005..50175928)	50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin	600119
Select item 2483 FRG1 ID: 2483	FSHD region gene 1 [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (189940872..189963192)	FRG1A, FSG1	601278
Select item 79147 FKRP ID: 79147	fukutin related protein [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (46744760..46758575)	FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5	606596
Select item 3105 HLA-A ID: 3105	major histocompatibility complex, class I, A [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (29942532..29945870)	HLAA	142800
Select item 7157 TP53 ID: 7157	tumor protein p53 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (7668421..7687490, complement)	BCC7, BMFS5, LFS1, P53, TRP53	191170
Select item 5339 PLEC ID: 5339	plectin [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (143915153..143976745, complement)	EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN1, PLEC1b, PLTN, PLEC	601282
Select item 1605 DAG1 ID: 1605	dystroglycan 1 [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (49468948..49535615)	156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9	128239
Select item 10585 POMT1 ID: 10585	protein O-mannosyltransferase 1 [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (131502918..131523799)	LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT	607423
Select item 55624 POMGNT1 ID: 55624	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (46188683..46220305, complement)	GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2	606822
Select item 825 CAPN3 ID: 825	calpain 3 [Homo sapiens (human)]	Chromosome 15, NC_000015.10 (42359501..42412317)	CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94	114240