Muscle eye brain disease | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MUSCLE EYE BRAIN DISEASE	C0457133	POMGNT1	Causal	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		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
		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
		FKRP	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		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
		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
		POMT1	Unknown	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		POMT2	Unknown	—	Disgenet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		RXYLT1	Unknown	—	Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
		TSPAN1	Unknown	—	Disgenet	—
MUSCLE EYE BRAIN DISEASE WITH BILATERAL MULTICYSTIC LEUKODYSTROPHY	C5191414	DAG1	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus ECM-receptor interaction Cytoskeleton in muscle cells +10 more
MUSCLE-EYE-BRAIN DISEASE	588 MONDO:0018939	B3GALNT2	Unknown	23453667	CTD, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		CRPPA	Unknown	33816389 35863218	Orphanet	Pentose and glucuronate interconversions Mannose type O-glycan biosynthesis Metabolic pathways
		FKRP	Unknown	15121789 19299310	GWAS catalog, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		FKTN	Unknown	17878207	GenCC, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways
		GMPPB	Unknown	23768512	GWAS catalog, Orphanet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		LARGE1	Unknown	19067344	Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective LARGE causes MDDGA6 and MDDGB6 +1 more
		POMGNT1	Unknown	12788071	GenCC, Orphanet	Mannose type O-glycan biosynthesis Metabolic pathways Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 +1 more
		POMT1	Unknown	17878207 19299310	GWAS catalog, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		POMT2	Unknown	17878207 19299310	GWAS catalog, Orphanet	Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis Metabolic pathways +3 more
		RXYLT1	Unknown	23217329 23519211 27733679 29477842 33199158 36007194	ClinGen, Disgenet	Mannose type O-glycan biosynthesis Metabolic pathways
MUSCLE-EYE-BRAIN DISEASE WITH BILATERAL MULTICYSTIC LEUCODYSTROPHY	370997	DAG1	Unknown	24052401	Orphanet	Virion - Lassa virus and SFTS virus ECM-receptor interaction Cytoskeleton in muscle cells +10 more