Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
THROMBOPHILIA	EFO_0009315 C0398623 MESH:D019851 MONDO:0002305	ABO	Unknown	39024449	GWAS catalog
		ADCY1	Unknown	39024449	GWAS catalog
		ATP1B1	Unknown	39024449	GWAS catalog
		ATXN10	Unknown	39024449	GWAS catalog
		F11	Unknown	39024449	GWAS catalog
		F13A1	Unknown	—	CTD Disgenet
		F2	Unknown	16628723 39024449	CTD Disgenet GWAS catalog
		F5	Unknown	39024449	GWAS catalog
		F8	Unknown	16628723	CTD Disgenet
		FGA	Unknown	8473507	CTD Disgenet GenCC
		FGB	Unknown	—	Disgenet GenCC
		FGG	Unknown	39024449	Disgenet GWAS catalog GenCC
		HABP2	Unknown	—	CTD Disgenet
		HLA-DQA1	Unknown	—	Disgenet
		LRAT	Unknown	39024449	GWAS catalog
		LRRC55	Unknown	39024449	GWAS catalog
		MTHFR	Unknown	17493413	CTD Disgenet
		NME7	Unknown	39024449	GWAS catalog
		PLG	Unknown	—	Disgenet
		PROC	Unknown	—	Disgenet
		SERPINA10	Unknown	15461625	CTD Disgenet
		SERPIND1	Unknown	2214444	CTD Disgenet
		SLC19A2	Unknown	39024449	GWAS catalog
		THBD	Unknown	12139752	CTD Disgenet
		WNT7B	Unknown	39024449	GWAS catalog
		WWOX	Unknown	40465716	GWAS catalog
		ZNF160	Unknown	39024449	GWAS catalog
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE	188055 C1861171 MESH:C566056 MONDO:0008560	F5	Causal	10666427 11110695 11583312 14617013 16268462 24523236 26649017 27090446 28889200 29179580 3286010 7673148 7734374 7911872 8164741 9454742 9616155	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
		PROC	Unknown	—	Disgenet
		PROS1	Unknown	—	Disgenet
		TFPI	Unknown	—	Disgenet
THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN	MESH:C567737	HRG	Unknown	—	CTD
THROMBOPHILIA DUE TO FACTOR V LEIDEN		F5	Unknown	—	ClinVar
THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	613116 C2751090	HRG	Unknown	—	Disgenet HPO
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	176860 MONDO:0008316	PROC	Causal	—	ClinVar GenCC HPO
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	612304 C2676759 MONDO:0012860 OMIM:612304	PROC	Causal	—	CTD ClinVar Disgenet GenCC HPO
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	612336 C3278211 MONDO:0012868	PROS1	Causal	—	ClinVar Disgenet GenCC HPO
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	614514 C3281092 MONDO:0013791	PROS1	Causal	—	ClinVar Disgenet GenCC HPO
THROMBOPHILIA DUE TO THROMBIN DEFECT	MONDO:0008559 188050	F13A1	Causal	—	ClinVar
		F2	Causal	10027711 11372696 11443298 16981886 16988559 22716977 23265743 27013614 29051591 32194638 8916933 9669991	ClinGen ClinVar GWAS catalog HPO
		MTHFR	Causal	—	ClinVar
		HABP2	Unknown	—	ClinVar
THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	614486 C3280976 MESH:C566057	THBD	Unknown	—	CTD Disgenet HPO
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR	C2676721 MONDO:0012872	PLAT	Unknown	—	ClinGen Disgenet GenCC
THROMBOPHILIA, HEREDITARY	C2584620 MESH:C540694	F5	Unknown	9136971	CTD Disgenet
THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	C2674321	PROC	Unknown	—	Disgenet
THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	MESH:C567347	PROS1	Unknown	—	CTD
THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	MESH:C567348	PROS1	Unknown	—	CTD
THROMBOPHILIA, X-LINKED, DUE TO FACTOR 8 DEFECT	MONDO:0859082	F8	Causal	—	ClinVar
THROMBOPHILIA, X-LINKED, DUE TO FACTOR 9 DEFECT	MONDO:0010432	F9	Causal	19846852 32079698	ClinGen ClinVar GWAS catalog

Thrombophilia