Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CONGENITAL MUSCULAR DYSTROPHY	C0699743	CAPN3	Causal	—	Disgenet
		FKBP14	Causal	—	Disgenet
		LAMA2	Causal	—	Disgenet
		LMNA	Causal	—	Disgenet
		RYR1	Causal	—	Disgenet
		COL6A2	Unknown	—	Disgenet
		NEB	Unknown	—	Disgenet
		POMT1	Unknown	—	Disgenet
		RIF1	Unknown	—	Disgenet
CONGENITAL MUSCULAR DYSTROPHY DUE TO INTEGRIN ALPHA-7 DEFICIENCY	MONDO:0013177	ITGA7	Causal	23800289 9590299	ClinVar Disgenet
CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION	157973 MONDO:0013178	LMNA	Causal	18551513	ClinVar GenCC Orphanet
CONGENITAL MUSCULAR DYSTROPHY PARADAS TYPE	C4511057	DYSF	Unknown	—	Disgenet
CONGENITAL MUSCULAR DYSTROPHY WITH CATARACTS AND INTELLECTUAL DISABILITY	MONDO:0024607	INPP5K	Causal	28190459 28190456 28940338	ClinVar GWAS catalog
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT	C5190848 370959 MONDO:0018277	FKRP	Unknown	21397493	Disgenet
		GMPPB	Unknown	21397493 23768512	Disgenet
		POMGNT1	Unknown	21397493	GWAS catalog Orphanet
		POMK	Unknown	24925318	Disgenet Orphanet
		POMT1	Unknown	21397493	GWAS catalog Orphanet
		POMT2	Unknown	21397493	GWAS catalog Orphanet
CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY	34520	ITGA7	Unknown	9590299	Orphanet
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY	370968 C5190846 MONDO:0018278	FKRP	Unknown	21397493	Disgenet GWAS catalog Orphanet
		GMPPB	Unknown	21397493 23768512	Disgenet GWAS catalog Orphanet
		LARGE1	Unknown	21397493	Disgenet Orphanet
		POMT1	Unknown	21397493	Disgenet GWAS catalog Orphanet
		POMT2	Unknown	21397493	Disgenet GWAS catalog Orphanet
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY	329178 C5190603 MONDO:0014023	DPM2	Causal	23109149	ClinGen ClinVar Disgenet Orphanet
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	370980 C5190847 MONDO:0018279	CRPPA	Unknown	23288328	Disgenet GWAS catalog Orphanet
		FKRP	Unknown	21397493	Disgenet GWAS catalog Orphanet
		FKTN	Unknown	21397493	CTD Disgenet Orphanet
		POMT1	Unknown	21397493	Disgenet GWAS catalog Orphanet
CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE	272	FKTN	Unknown	20301385	Orphanet
CONGENITAL MUSCULAR DYSTROPHY, RESPIRATORY FAILURE, SKIN ABNORMALITIES, JOINT HYPERLAXITY SYNDROME	C4310736	TRIP4	Unknown	—	Disgenet
CONGENITAL MUSCULAR DYSTROPHY-CATARACT-INTELLECTUAL DISABILITY SYNDROME	662184	INPP5K	Unknown	28190456 28190459 33792664	Orphanet
CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME	486815 MONDO:0014896	TRIP4	Causal	27008887	ClinVar Orphanet

Congenital muscular dystrophy