Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL MUSCULAR DYSTROPHY	C0699743	CAPN3	Causal	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix
		FKBP14	Causal	—	Disgenet	XBP1(S) activates chaperone genes
		LAMA2	Causal	11071490 11591858 12552556 12601554 16216942 18700894 7550355 9158149	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LMNA	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		RYR1	Causal	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
		COL6A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		NEB	Unknown	—	Disgenet	Cytoskeleton in muscle cells Striated Muscle Contraction
		POMT1	Unknown	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		RIF1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Nonhomologous End-Joining (NHEJ)
CONGENITAL MUSCULAR DYSTROPHY DUE TO INTEGRIN ALPHA-7 DEFICIENCY	MONDO:0013177	ITGA7	Causal	23800289 9590299	ClinVar, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION	157973 MONDO:0013178	LMNA	Causal	18551513	ClinVar, GenCC, Orphanet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
CONGENITAL MUSCULAR DYSTROPHY PARADAS TYPE	C4511057	DYSF	Unknown	—	Disgenet	Smooth Muscle Contraction
CONGENITAL MUSCULAR DYSTROPHY WITH CATARACTS AND INTELLECTUAL DISABILITY	MONDO:0024607	INPP5K	Causal	28190459 28190456 28940338	ClinVar, GWAS catalog	Inositol phosphate metabolism Metabolic pathways Synthesis of PIPs at the plasma membrane
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT	370959 MONDO:0018277 C5190848	FKRP	Unknown	21397493	HPO, Orphanet, Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		GMPPB	Unknown	21397493 23768512	Disgenet, GWAS catalog, Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		POMGNT1	Unknown	21397493	GWAS catalog, Orphanet, Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		POMK	Unknown	24925318	Disgenet, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		POMT1	Unknown	21397493	GWAS catalog, Orphanet, Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		POMT2	Unknown	21397493	GWAS catalog, Orphanet, Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY	34520	ITGA7	Unknown	9590299	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY	370968 C5190846 MONDO:0018278	FKRP	Unknown	21397493	Disgenet, GWAS catalog, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		GMPPB	Unknown	21397493 23768512	Disgenet, GWAS catalog, Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		LARGE1	Unknown	21397493	Disgenet, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective LARGE causes MDDGA6 and MDDGB6 +1 more
		POMT1	Unknown	21397493	Disgenet, GWAS catalog, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		POMT2	Unknown	21397493	Disgenet, GWAS catalog, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY	329178 C5190603 MONDO:0014023	DPM2	Causal	23109149	ClinGen, ClinVar, Disgenet, Orphanet	N-Glycan biosynthesis Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways +5 more
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	370980 C5190847 MONDO:0018279	CRPPA	Unknown	23288328	Disgenet, GWAS catalog, Orphanet	Pentose and glucuronate interconversions Mannose type O-glycan biosynthesis Metabolic pathways
		FKRP	Unknown	21397493	Disgenet, GWAS catalog, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Unknown	21397493	CTD, Disgenet, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		POMT1	Unknown	21397493	Disgenet, GWAS catalog, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE	272	FKTN	Unknown	20301385	Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
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	Inositol phosphate metabolism Metabolic pathways Synthesis of PIPs at the plasma membrane
CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME	486815 MONDO:0014896	TRIP4	Causal	27008887	ClinVar, Orphanet	—

Congenital muscular dystrophy

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