Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT LIMB GIRDLE MUSCULAR DYSTROPHY	C5675009	CAPN3	Unknown	—	Disgenet
		DNAJB6	Unknown	—	Disgenet
		HNRNPDL	Unknown	—	Disgenet
		TNPO3	Unknown	—	Disgenet
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1C	MONDO:0011910	CAV3	Unknown	11251997 12666119 15318349 15668980 16730439 17537631 18487559 18930476 19697367 20472890 21294223 9536092	GWAS catalog
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D	MONDO:0021018	DNAJB6	Unknown	22366786 27747217 28233300	ClinVar GWAS catalog
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F	MONDO:0012034	TNPO3	Causal	23543484 23667635 30567601 31192305 31217819	CTD ClinVar
AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G	MONDO:0012193	HNRNPDL	Causal	24647604 30604053	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2P	C4511963	DAG1	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2S	C4517996	TRAPPC11	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2T	C4518000	GMPPB	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2U	C5190987	CRPPA	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2Y	C4511482	TOR1AIP1	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2Y	C4511482	TOR1AIP2	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY	MONDO:0015152	ANO5	Causal	20096397 21186264 21820307 22336395 25891276 26911675 28489263 29789544 30257928 31341644 32736698	ClinGen Disgenet
		CAPN3	Causal	10229226 10330340 11134085 15138196 15827562 16290124 21624972 34514031 7720071 9150160 9521867 9777948	ClinGen GWAS catalog
		DYSF	Causal	10196375 10196377 11532985 12736685 14678801 15254015 16010686 16087766 17825554 19834057 20861509 21079765 21522182 24302765 27858744 28104817 28707952 31019989 31890729 9731526	ClinGen HPO
		SGCA	Causal	10608889 19781108 26934379 7663524 8069911 9744877	CTD ClinGen
		SGCB	Causal	10662809 10678176 14981741 25862795 28284983 28687063 30919934 7581448 7581449 8968749 9864373	ClinGen GWAS catalog
		SGCD	Causal	10735275 10838250 10862711 19259135 20623375 22328522 26709803 30733730 8841194 8842738 9832045	ClinGen GWAS catalog
		SGCG	Causal	22367371 26709803 27708273 31194043 31582396 7481775 8923014 8968757 9430699	ClinGen GWAS catalog
		TRAPPC11	Causal	23830518 26322222 26912795 27707803 28827486 30105108 31575891 34648194	ClinGen GWAS catalog
		TRIM32	Causal	11822024 15786463 17994549 19155210 19303295 19492423 21775502 31309175	ClinGen GWAS catalog
		BVES	Unknown	—	ClinGen
		HMGCR	Unknown	26381177 36745799 37167966	ClinGen GWAS catalog
		JAG2	Unknown	20220848 33861953 34878394 39121631 9531541	ClinGen GWAS catalog
		LIMS2	Unknown	—	ClinGen
		POGLUT1	Unknown	27807076 29634421 31897643	ClinGen GWAS catalog
		POPDC1	Unknown	10882522 26642364 27347491 31119192 33310206 35660068 35718670	GWAS catalog
		POPDC3	Unknown	10882522 31610034 35075722 35842834 37104941	ClinGen GWAS catalog
		TCAP	Unknown	10655062 19679566 20233748 25055047 27618135 28666572 9645487 9817758	ClinGen Disgenet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A	MONDO:0009675	CAPN3	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B	MONDO:0009676	DYSF	Causal	20301480	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C	MONDO:0009677	SGCG	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D	MONDO:0011968	SGCA	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E	MONDO:0011423	SGCB	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F	MONDO:0011028	SGCD	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G	MONDO:0011170	TCAP	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H	MONDO:0009683	TRIM32	Unknown	11822024 17994549	ClinGen
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I	MONDO:0011787	FKRP	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J	MONDO:0012127	TTN	Causal	1619633 24395473	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K	MONDO:0012248	POMT1	Causal	20301582	ClinVar Disgenet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L	MONDO:0012652	ANO5	Causal	114459 21186264 23606453 25891276	ClinVar Orphanet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M	MONDO:0012699	FKTN	Causal	19342235 17044012 17036286 12601708 14627679 21228398 19179078 9690476 17878207 10545611	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N	MONDO:0013162	POMT2	Causal	20301582	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O	MONDO:0013161	POMGNT1	Causal	22419172 18195152	CTD ClinVar
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P	MONDO:0013440	DAG1	Causal	21388311	ClinVar Disgenet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q	MONDO:0013390	PLEC	Causal	8696340 15681471 35579050	ClinVar Disgenet
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R1	MONDO:0014977	POGLUT1	Causal	31897643 37213117	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T	MONDO:0014142	GMPPB	Causal	23768512 26310427 29437916 30257713	ClinVar GWAS catalog

Limb girdle muscular dystrophy