Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	C0265221	FKRP	Causal	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Causal	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		POMT1	Causal	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		RXYLT1	Causal	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		B3GALNT2	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		B4GAT1	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Keratan sulfate biosynthesis +2 more
		CELSR1	Unknown	—	Disgenet	—
		COL4A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		CRPPA	Unknown	—	Disgenet	Pentose and glucuronate interconversions Mannose type O-glycan biosynthesis Metabolic pathways
		DAG1	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus ECM-receptor interaction Cytoskeleton in muscle cells +10 more
		GMPPB	Unknown	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		LARGE1	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective LARGE causes MDDGA6 and MDDGB6 +1 more
		POMGNT1	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		POMGNT2	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		POMK	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		POMT2	Unknown	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
WALKER-WARBURG SYNDROME	899 MESH:D058494	B3GALNT2	Unknown	23453667	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		B4GAT1	Unknown	23359570	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Keratan sulfate biosynthesis +2 more
		COL4A1	Unknown	21625620	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		CRPPA	Unknown	22522420 22522421	CTD, Orphanet	Pentose and glucuronate interconversions Mannose type O-glycan biosynthesis Metabolic pathways
		DAG1	Unknown	25934851	CTD, Orphanet	Virion - Lassa virus and SFTS virus ECM-receptor interaction Cytoskeleton in muscle cells +10 more
		FKRP	Unknown	20236121	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Unknown	17878207 18177472	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		GMPPB	Unknown	—	CTD	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		LARGE1	Unknown	19299310 21727005	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective LARGE causes MDDGA6 and MDDGB6 +1 more
		POMGNT1	Unknown	19299310	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		POMGNT2	Unknown	22958903	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		POMK	Unknown	23519211	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		POMT1	Unknown	19880378	CTD, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		POMT2	Unknown	19880378	CTD, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		RXYLT1	Unknown	23217329 23519211	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways

Walker-warburg syndrome

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