Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
HYPERTENSION, PULMONARY	MESH:D006976	SOD2	Unknown	20110409	CTD
		TGFA	Unknown	18424623	CTD
		TNF	Unknown	2518282	CTD
		TPH1	Unknown	18506000	CTD
IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION	C5679820	BMPR2	Causal	—	Disgenet
IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION	C5679820	FOXF1	Unknown	—	Disgenet
IDIOPATHIC PULMONARY HYPERTENSION	C0152171	ATP13A3	Unknown	—	Disgenet
		BMPR2	Unknown	—	Disgenet
		CAV1	Unknown	—	Disgenet
		HDAC1	Unknown	—	Disgenet
		HDAC4	Unknown	—	Disgenet
		HDAC5	Unknown	—	Disgenet
		KCNK3	Unknown	—	Disgenet
		PTGIS	Unknown	—	Disgenet
		RYR1	Unknown	—	Disgenet
		SMAD9	Unknown	—	Disgenet
NEONATAL PULMONARY HYPERTENSION	C4012212	CPS1	Unknown	—	Disgenet
NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT	466784	SLC25A26	Unknown	26522469	Orphanet
PRIMARY PULMONARY HYPERTENSION	MONDO_0001999	PLPPR5	Unknown	40465716	GWAS catalog
PRIMARY PULMONARY HYPERTENSION	MONDO_0001999	RGS3	Unknown	39024449	GWAS catalog
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO	MONDO:0014151	CPS1	Causal	—	ClinVar
PULMONARY HYPERTENSION, PRIMARY, 1	C4552070 178600 MONDO:0024533	ACVRL1	Causal	—	Disgenet
		BMPR2	Causal	—	ClinVar Disgenet GenCC HPO
		ENG	Causal	—	Disgenet
		KCNK3	Causal	—	Disgenet
		PAH	Causal	—	Disgenet
		TBX4	Causal	—	Disgenet
		KCNA5	Unknown	—	Disgenet
		SMAD1	Unknown	—	Disgenet
		SMAD4	Unknown	—	Disgenet
		SMAD9	Unknown	—	Disgenet
PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA	C3714844	BMPR2	Causal	—	Disgenet
PULMONARY HYPERTENSION, PRIMARY, 2	615342 C3888002 MONDO:0014134	SMAD9	Causal	19211612 19419974 21920918 26820968 29650961 31727138	ClinVar Disgenet GWAS catalog HPO
PULMONARY HYPERTENSION, PRIMARY, 3	615343 C3809192 MONDO:0014135	CAV1	Causal	18211975 18237401 22474227	ClinVar Disgenet GWAS catalog HPO
PULMONARY HYPERTENSION, PRIMARY, 3	615343 C3809192 MONDO:0014135	BMPR1B	Unknown	—	Disgenet
PULMONARY HYPERTENSION, PRIMARY, 4	615344 C3809198 MONDO:0014136	KCNK3	Causal	23883380 27453251 28388887 28889099 29650961	CTD ClinVar Disgenet HPO
PULMONARY HYPERTENSION, PRIMARY, 5	265400 C5676877	ATP13A3	Causal	—	Disgenet HPO
PULMONARY HYPERTENSION, PRIMARY, 6	620777 C5935600 MONDO:0958334	CAPNS1	Causal	—	ClinVar Disgenet HPO
PULMONARY HYPERTENSION, PRIMARY, 7	621248	SOX17	Unknown	—	ClinVar
PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE	MONDO:0009935	ATP13A3	Unknown	—	ClinVar
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED	C1969342	BMPR2	Causal	—	Disgenet
PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED	C1969343	BMPR2	Unknown	—	Disgenet

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Pulmonary hypertension