Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL PRIMARY PULMONARY HYPERTENSION	C0340543 MESH:D065627	ACVRL1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Signaling by BMP
		ATP13A3	Unknown	—	Disgenet	—
		BMPR2	Unknown	25460361	CTD, Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		CAV1	Unknown	—	CTD, Disgenet	Endocytosis Focal adhesion Prion disease +11 more
		EIF2AK4	Unknown	—	Disgenet	Autophagy - animal Hepatitis C Measles +1 more
		GDF2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Signaling by BMP
		HDAC1	Unknown	22711276	CTD	ATP-dependent chromatin remodeling Polycomb repressive complex Cell cycle +34 more
		HDAC4	Unknown	22711276	CTD	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism +8 more
		HDAC5	Unknown	22711276	CTD	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism +5 more
		KCNK3	Unknown	—	CTD, Disgenet	Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome +2 more
		SMAD9	Unknown	—	CTD, Disgenet	Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells +1 more
		SOX17	Unknown	—	Disgenet	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		TBX4	Unknown	—	Disgenet	—
HYPERTENSION, PULMONARY	MESH:D006976	ABCA3	Unknown	26780485	CTD	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
		ACE	Unknown	12359135	CTD	Renin-angiotensin system Renin secretion Chagas disease +4 more
		ACE2	Unknown	31931441	CTD	Renin-angiotensin system Protein digestion and absorption Coronavirus disease - COVID-19 +1 more
		ACVRL1	Unknown	26540443	CTD	Cytokine-cytokine receptor interaction Signaling by BMP
		ALOX5	Unknown	14726295	CTD	Arachidonic acid metabolism Metabolic pathways Efferocytosis +19 more
		ARG2	Unknown	24951775	CTD	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +4 more
		ATP7A	Unknown	24614111	CTD	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more
		BMPR2	Unknown	11590841 11893684 12358323 16297860 20496075 20522807 23383100 23502781 24224048	CTD	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		BRD4	Unknown	26224795	CTD	—
		CA9	Unknown	20110409	CTD	Nitrogen metabolism Metabolic pathways Regulation of gene expression by Hypoxia-inducible Factor +1 more
		CALCA	Unknown	1357980	CTD	Neuroactive ligand-receptor interaction Hormone signaling Vascular smooth muscle contraction +4 more
		CBLN2	Unknown	23502781	CTD	—
		CCL1	Unknown	22507635	CTD	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +2 more
		CCL2	Unknown	15302794 30418988	CTD	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +18 more
		CD40LG	Unknown	15302794	CTD	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +14 more
		CXCL8	Unknown	15302794	CTD	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +37 more
		EDN1	Unknown	12391278 20929026 20967148 7549228 9918753	CTD	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
		EDNRB	Unknown	15927975	CTD	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		EIF2AK4	Unknown	24292273	CTD	Autophagy - animal Hepatitis C Measles +1 more
		FBLN5	Unknown	12189163	CTD	Elastic fibre formation Molecules associated with elastic fibres
		FOXO1	Unknown	27663689	CTD	FoxO signaling pathway AMPK signaling pathway Longevity regulating pathway +23 more
		GBA1	Unknown	12359135	CTD	—
		GDF2	Unknown	26801773	CTD	Cytokine-cytokine receptor interaction Signaling by BMP
		HIF1A	Unknown	20110409	CTD	HIF-1 signaling pathway Mitophagy - animal Autophagy - animal +19 more
		HTR2B	Unknown	14659797	CTD	Calcium signaling pathway Neuroactive ligand-receptor interaction Gap junction +4 more
		KCNA5	Unknown	27522126	CTD	Voltage gated Potassium channels
		KCNK3	Unknown	30365877	CTD	Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome +2 more
		KCNMA1	Unknown	28090300	CTD	cGMP-PKG signaling pathway Vascular smooth muscle contraction Insulin secretion +4 more
		LEPR	Unknown	30689673	CTD	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +4 more
		LOX	Unknown	24614111	CTD	Elastic fibre formation Crosslinking of collagen fibrils
		NFATC2	Unknown	27522126	CTD	Calcium signaling pathway cGMP-PKG signaling pathway Efferocytosis +24 more
		NOS3	Unknown	21144100	CTD	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +24 more
		NPPB	Unknown	20408845 21351102	CTD	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +1 more
		PRKG1	Unknown	21351102	CTD	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +10 more
		SLC31A1	Unknown	24614111	CTD	Platinum drug resistance Mineral absorption Metal ion SLC transporters
		SLC6A4	Unknown	18506000	CTD	Synaptic vesicle cycle Serotonergic synapse Serotonin clearance from the synaptic cleft
		SOD2	Unknown	20110409	CTD	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
		TGFA	Unknown	18424623	CTD	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +31 more
		TNF	Unknown	2518282	CTD	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		TPH1	Unknown	18506000	CTD	Tryptophan metabolism Folate biosynthesis Metabolic pathways +3 more
IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION	C5679820	FOXF1	Unknown	—	Disgenet	—
IDIOPATHIC PULMONARY HYPERTENSION	C0152171	ATP13A3	Unknown	—	Disgenet	—
		BMPR2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		CAV1	Unknown	—	Disgenet	Endocytosis Focal adhesion Prion disease +11 more
		HDAC1	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Polycomb repressive complex Cell cycle +34 more
		HDAC4	Unknown	—	Disgenet	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism +8 more
		HDAC5	Unknown	—	Disgenet	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism +5 more
		KCNK3	Unknown	—	Disgenet	Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome +2 more
		PTGIS	Unknown	—	Disgenet	Arachidonic acid metabolism Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +6 more
		SMAD9	Unknown	—	Disgenet	Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells +1 more
PULMONARY HYPERTENSION, PRIMARY, 1	C4552070	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
PULMONARY HYPERTENSION, PRIMARY, 1	C4552070	SMAD9	Unknown	—	Disgenet	Hormone signaling TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells +1 more
PULMONARY HYPERTENSION, PRIMARY, 7	621248	SOX17	Unknown	—	ClinVar	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE	MONDO:0009935	ATP13A3	Unknown	—	ClinVar	—
PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED	C1969343	BMPR2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more

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Pulmonary hypertension

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