Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FAMILIAL HYPERCHOLESTEROLEMIA	MONDO:0005439	APOB	Causal	—	ClinVar
		LDLR	Causal	—	ClinVar
		LDLRAP1	Causal	—	ClinVar
		PCSK9	Causal	—	ClinVar
HYPERCHOLANEMIA, FAMILIAL	C1843139 MESH:C564336	WDR83OS	Causal	—	Disgenet
		BAAT	Unknown	—	Disgenet
		EPHX1	Unknown	12878321	CTD Disgenet
		SLC10A1	Unknown	—	Disgenet
		TJP2	Unknown	—	CTD Disgenet
		WDR83	Unknown	—	Disgenet
HYPERCHOLANEMIA, FAMILIAL 1	607748 C5542604 MONDO:0031446	TJP2	Causal	12704386 24614073 27959697 28039895	ClinVar Disgenet GWAS catalog HPO
		BAAT	Unknown	12704386 22089923 23415802 27124789	Disgenet GWAS catalog
		DOCK6	Unknown	—	Disgenet
		EPHX1	Unknown	—	Disgenet
HYPERCHOLANEMIA, FAMILIAL 3	619232	BAAT	Unknown	—	HPO
HYPERCHOLANEMIA, FAMILIAL, 2	619256 C5543243 MONDO:0031003	SLC10A1	Causal	24867799 27882152 28835676 29290974 31201272	ClinVar Disgenet GenCC HPO
HYPERCHOLESTEROLEMIA	C0020443 MESH:D006937	ABCG5	Causal	—	Disgenet
		LDLR	Causal	18450471 20530721 22884763 26875785	CTD Disgenet
		ABCA1	Unknown	22022523	CTD Disgenet
		APOB	Unknown	1600334	CTD Disgenet
		APOE	Unknown	11397713 21043830 22022523 22228805	CTD Disgenet
		CES1	Unknown	12773168	CTD Disgenet
		COL3A1	Unknown	21852083	CTD Disgenet
		CTF1	Unknown	21803294	CTD Disgenet
		CYP7A1	Unknown	8245718	CTD Disgenet
		EDN1	Unknown	15486036	CTD Disgenet
		GPR17	Unknown	34144038	CTD Disgenet
		HMGCR	Unknown	8593127	CTD Disgenet
		ICAM1	Unknown	14602771	CTD Disgenet
		LEP	Unknown	25086370	CTD Disgenet
		LMNA	Unknown	—	Disgenet
		LPA	Unknown	12697372	CTD
		LPL	Unknown	21852083	CTD Disgenet
		MYLK	Unknown	21052790	CTD Disgenet
		NCF1	Unknown	14871415	CTD Disgenet
		NOX1	Unknown	20832062	CTD Disgenet
		NR4A3	Unknown	16005304	CTD Disgenet
		PCSK9	Unknown	12730697	CTD
		PDE1C	Unknown	—	Disgenet
		PON1	Unknown	16229851	CTD Disgenet
		PPP1R17	Unknown	—	Disgenet
		SELE	Unknown	14602771	CTD Disgenet
		SREBF2	Unknown	—	Disgenet
		VCAM1	Unknown	14602771	CTD Disgenet
HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY	209902 C4751204 MONDO:0016203	CYP7A1	Unknown	12093894	Disgenet Orphanet
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3	MESH:C566337 MONDO:0011369	PCSK9	Causal	—	CTD ClinGen ClinVar GenCC
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	MONDO:0007751	APOB	Causal	—	ClinGen ClinVar GenCC
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	C1863512	LDLR	Unknown	—	Disgenet
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	C1863512	LDLRAP1	Unknown	—	Disgenet
HYPERCHOLESTEROLEMIA, FAMILIAL	C0020445	ABCA1	Unknown	—	Disgenet

Hypercholesterolemia