Wolfram syndrome | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
WOLFRAM SYNDROME	3463 C0043207 MESH:D014929 MONDO:0018105	WFS1	Causal	—	CTD, ClinGen, Disgenet, Orphanet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		CISD2	Unknown	—	CTD, ClinGen, Disgenet, Orphanet	—
		ND1	Unknown	19483677 24874954 29760529 29892088 31171569 9618163	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
WOLFRAM SYNDROME 1	222300 C4551693 MONDO:0009101	WFS1	Causal	26239400	ClinVar, Disgenet, GenCC, HPO, ClinGen	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
WOLFRAM SYNDROME 2	604928 C1858028 MESH:C565733 MONDO:0011502	CISD2	Causal	17846994 19451219 24833725 25056293 25371195 28335035 29237418 31309279 31391115 31600780 33610659	CTD, ClinVar, Disgenet, HPO, ClinGen	—
		CISD3	Unknown	—	Disgenet	—
		PCGF2	Unknown	12754709 12913071 15056606 16151413 16806192 18249014 21446023 21602428 24705017 24823368 25690803 27341211 34434372	Disgenet	Polycomb repressive complex Signaling pathways regulating pluripotency of stem cells SUMOylation of DNA damage response and repair proteins +4 more
		SLC9B1	Unknown	—	Disgenet	Stimuli-sensing channels