Hepatolenticular degeneration | 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
HEPATOLENTICULAR DEGENERATION	C0019202 MESH:D006527	A2M	Unknown	23519153	CTD, Disgenet	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more
		AHCY	Unknown	23519153	CTD, Disgenet	Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways +3 more
		ALG11	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +1 more
		ANKS1B	Unknown	23519153	CTD, Disgenet	—
		ANXA5	Unknown	21751376	CTD, Disgenet	Platelet degranulation
		APOE	Unknown	10686180	CTD, Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ASMT	Unknown	23519153	CTD, Disgenet	Tryptophan metabolism Metabolic pathways Serotonin and melatonin biosynthesis
		ATP7B	Unknown	10686180 10790207 10830865 10982773 11157799 11405812 11472373 11803042 11854914 11985593 12228238 12544487 12820478 14574444 14579150 14998371 15135151 15147237 15911138 16133174 16607473 16824500 16932613 17182432 17276780 17634	CTD, Disgenet	Platinum drug resistance Mineral absorption Ion transport by P-type ATPases
		BHMT	Unknown	23519153	CTD, Disgenet	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate +4 more
		CAMK2A	Unknown	23519153	CTD, Disgenet	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
		CP	Unknown	22243965 23519153 7849148	CTD, Disgenet	Porphyrin metabolism Ferroptosis Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +5 more
		CXCL8	Unknown	25002079	CTD	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +37 more
		HAMP	Unknown	23519153	CTD, Disgenet	Hormone signaling TGF-beta signaling pathway
		IL10	Unknown	25002079	CTD, Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor FoxO signaling pathway +25 more
		IL6	Unknown	25002079	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Antifolate resistance Cytokine-cytokine receptor interaction +59 more
		LOX	Unknown	16023247	CTD, Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		LOXL2	Unknown	16023247	CTD, Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		NDUFB7	Unknown	23519153	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		PPP3CA	Unknown	23519153	CTD, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		PPP3CB	Unknown	23519153	CTD, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		PRNP	Unknown	16831968	CTD, Disgenet	Ferroptosis Prion disease Pathways of neurodegeneration - multiple diseases +1 more
		SASH1	Unknown	—	Disgenet	—
		SDHAF2	Unknown	23519153	CTD, Disgenet	—
		SNCA	Unknown	23519153	CTD, Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		TIMP1	Unknown	26241054	CTD, Disgenet	HIF-1 signaling pathway Platelet degranulation Activation of Matrix Metalloproteinases +4 more
		TMEM272	Unknown	—	Disgenet	—
		TNF	Unknown	25002079	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more