Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ESSENTIAL HYPERTENSION	C0085580 MESH:D000075222 MONDO_0001134	AGTR1	Causal	—	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phospholipase D signaling pathway +18 more
		PTGIS	Causal	—	CTD, Disgenet	Arachidonic acid metabolism Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +6 more
		ABCC10	Unknown	39024449	GWAS catalog	ABC transporters ABC-family proteins mediated transport
		ABHD17C	Unknown	39024449	GWAS catalog	—
		ADD1	Unknown	—	CTD, Disgenet	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
		ADH1B	Unknown	39024449	GWAS catalog	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +7 more
		ADRB1	Unknown	39024449	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +12 more
		AGT	Unknown	39024449	Disgenet, GWAS catalog	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		AIF1	Unknown	34453990	CTD, Disgenet	—
		ANTXR2	Unknown	32589924	GWAS catalog	NOD-like receptor signaling pathway Uptake and function of anthrax toxins
		APOE	Unknown	39024449	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ARHGAP42	Unknown	39024449	GWAS catalog	Rho GTPase cycle
		ATG7	Unknown	39024449	GWAS catalog	Autophagy - other Autophagy - animal Ferroptosis +5 more
		ATP1B1	Unknown	—	CTD, Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +19 more
		ATP2A2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		ATP2B1	Unknown	39024449	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		ATXN2	Unknown	39024449	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		B3GLCT	Unknown	32589924 39024449	GWAS catalog	Other types of O-glycan biosynthesis Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		BAHCC1	Unknown	32589924	GWAS catalog	—
		CABCOCO1	Unknown	39024449	GWAS catalog	—
		CACNA1D	Unknown	39024449	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNB2	Unknown	39024449	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CALY	Unknown	30753204	CTD, Disgenet	Dopaminergic synapse
		CASZ1	Unknown	39024449	GWAS catalog	—
		CAT	Unknown	—	Disgenet	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		CCDC71L	Unknown	39024449	GWAS catalog	—
		CDC27	Unknown	39024449	GWAS catalog	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
		CDCA3	Unknown	—	Disgenet	—
		CEP68	Unknown	39024449	GWAS catalog	—
		CHEK2	Unknown	32589924	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		CHP1	Unknown	32589924	GWAS catalog	Hyaluronan uptake and degradation
		CLCN6	Unknown	39024449	GWAS catalog	Stimuli-sensing channels Signaling by BRAF and RAF fusions
		CNNM2	Unknown	39024449	GWAS catalog	—
		CPEB4	Unknown	39024449	GWAS catalog	Oocyte meiosis Progesterone-mediated oocyte maturation
		CSK	Unknown	39024449	GWAS catalog	Epithelial cell signaling in Helicobacter pylori infection GAB1 signalosome Phosphorylation of CD3 and TCR zeta chains +8 more
		CYBA	Unknown	34453990	CTD, Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
		CYBB	Unknown	34453990	CTD, Disgenet	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		CYP3A5	Unknown	—	CTD, Disgenet	Steroid hormone biosynthesis Retinol metabolism Metabolism of xenobiotics by cytochrome P450 +5 more
		DCDC1	Unknown	39024449	GWAS catalog	—
		DEFB136	Unknown	32589924	GWAS catalog	Beta defensins Defensins
		DNAJC1	Unknown	32589924	GWAS catalog	Protein processing in endoplasmic reticulum
		EBF1	Unknown	39024449	GWAS catalog	—
		ECE1	Unknown	—	CTD, Disgenet	Peptide ligand-binding receptors
		FES	Unknown	39024449	GWAS catalog	Axon guidance Signaling by SCF-KIT Sema3A PAK dependent Axon repulsion +1 more
		FFAR2	Unknown	34453990	CTD, Disgenet	cAMP signaling pathway G alpha (q) signalling events Free fatty acid receptors
		FFAR3	Unknown	34453990	CTD, Disgenet	G alpha (q) signalling events Free fatty acid receptors
		FGD5	Unknown	32589924 39024449	GWAS catalog	—
		FGF5	Unknown	37601966 39024449 40465716	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +40 more
		FIGN	Unknown	39024449	GWAS catalog	—
		FOXC1	Unknown	32589924	GWAS catalog	—
ESSENTIAL HYPERTENSION, GENETIC	MONDO:0007781	AGTR1	Causal	—	ClinVar	Calcium signaling pathway cGMP-PKG signaling pathway Phospholipase D signaling pathway +18 more
		ADD1	Unknown	—	ClinVar	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
		ATP1B1	Unknown	—	ClinVar	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +19 more
		CYP3A5	Unknown	—	ClinVar	Steroid hormone biosynthesis Retinol metabolism Metabolism of xenobiotics by cytochrome P450 +5 more
		ECE1	Unknown	—	ClinVar	Peptide ligand-binding receptors
		PTGIS	Unknown	12372404 31453292 32236489 9217767	ClinGen, ClinVar	Arachidonic acid metabolism Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +6 more
HYPERTENSION	EFO_0000537 MESH:D006973	ABCC10	Unknown	35652341 38965376 39024449 39789286	GWAS catalog	ABC transporters ABC-family proteins mediated transport
		ABHD17C	Unknown	33893285 37947095 38965376 39024449 39789286	GWAS catalog	—
		ADD1	Unknown	15773232 19199261	CTD	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
		ADH1B	Unknown	39024449 39789286	GWAS catalog	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +7 more
		ADRB1	Unknown	10673262 9260993 30487518 36329257 37947095 38965376 39024449 39789286	CTD, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +12 more
		AGT	Unknown	10400907 10526905 11459117 11501062 12084390 12121858 12414515 12600921 12676074 1394429 1432030 14751847 15243307 15302986 15699457 15833808 15851630 16618834 16788141 16868307 17272743 17537837 17989111 18420994 1849535 1860718	CTD, GWAS catalog	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		AGTR1	Unknown	19047579 23603059 27292124 8952600	CTD	Calcium signaling pathway cGMP-PKG signaling pathway Phospholipase D signaling pathway +18 more
		AIF1	Unknown	32147540	CTD	—
		APOE	Unknown	20720404 22228705 38965376 39024449	CTD, GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ARHGAP42	Unknown	21909115 30487518 30940143 31879980 34026292 37947095 38965376 39024449 39789286	GWAS catalog	Rho GTPase cycle
		ATG7	Unknown	39024449 39789286	GWAS catalog	Autophagy - other Autophagy - animal Ferroptosis +5 more
		ATP2B1	Unknown	19430479 25249183 28273873 30487518 31513605 31879980 32709000 35652341 36187959 37947095 39024449 41206923	CTD, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		ATXN2	Unknown	31879980 37947095 38965376 39024449	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		B3GLCT	Unknown	33230300 38965376 39024449 39789286	GWAS catalog	Other types of O-glycan biosynthesis Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		BAHCC1	Unknown	38965376	GWAS catalog	—
		CABCOCO1	Unknown	31879980 37947095 38965376 39024449 39789286	GWAS catalog	—
		CACNA1D	Unknown	25249183 30487518 36187959 38965376 39024449 39789286	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNB2	Unknown	19430479 21909115 31879980 35652341 37947095 38965376 39024449 39789286	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CASZ1	Unknown	25249183 30487518 35652341 36329257 37947095 38965376 39024449 39789286	GWAS catalog	—
		CAT	Unknown	11479740 20667508 21593737 22228705	CTD	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		CCDC71L	Unknown	31879980 37947095 38965376 39024449 39789286	GWAS catalog	—
		CDC27	Unknown	39024449	GWAS catalog	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
		CEP68	Unknown	37947095 39024449	GWAS catalog	—
		CLCN6	Unknown	37947095 38965376 39024449 39789286	GWAS catalog	Stimuli-sensing channels Signaling by BRAF and RAF fusions
		CNNM2	Unknown	30487518 31879980 32709000 39024449	GWAS catalog	—
		CPEB4	Unknown	39024449	GWAS catalog	Oocyte meiosis Progesterone-mediated oocyte maturation
		CSK	Unknown	31513605 31879980 38965376 39024449 39789286	GWAS catalog	Epithelial cell signaling in Helicobacter pylori infection GAB1 signalosome Phosphorylation of CD3 and TCR zeta chains +8 more
		CYBA	Unknown	16685210 17324946 20505675 32147540	CTD	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
		CYBB	Unknown	16685210 21593737 27659729 27847271 32147540 32165127	CTD	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		CYP3A5	Unknown	38965376	GWAS catalog	Steroid hormone biosynthesis Retinol metabolism Metabolism of xenobiotics by cytochrome P450 +5 more
		DCDC1	Unknown	37947095 39024449	GWAS catalog	—
		EBF1	Unknown	30487518 38965376 39024449	GWAS catalog	—
		ECE1	Unknown	12566389	CTD	Peptide ligand-binding receptors
		FES	Unknown	21909115 31879980 39024449	GWAS catalog	Axon guidance Signaling by SCF-KIT Sema3A PAK dependent Axon repulsion +1 more
		FGD5	Unknown	30487518 31217584 37947095 39024449	GWAS catalog	—
		FGF5	Unknown	25249183 30487518 31879980 32709000 33893285 34026292 35652341 36329257 37947095 38965376 39024449 39789286 40465716	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +40 more
		FIGN	Unknown	30487518 31879980 32709000 34026292 36329257 37947095 38965376 39024449 39789286	GWAS catalog	—
		FOXC1	Unknown	38965376 39024449	GWAS catalog	—
HYPERTENSION, ESSENTIAL	145500	ATP1B1	Unknown	—	HPO	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +19 more
HYPERTENSION, ESSENTIAL	145500	PTGIS	Unknown	—	HPO	Arachidonic acid metabolism Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +6 more
HYPERTENSION, PREGNANCY-INDUCED	MONDO_0024664	FGF5	Unknown	36553520 37285119	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +40 more
HYPERTENSIVE DISEASE	C0020538	ADD1	Unknown	—	Disgenet	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
		ADRB1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +12 more
		AGT	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		AGTR1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phospholipase D signaling pathway +18 more
		AIF1	Unknown	—	Disgenet	—
		APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ATP2B1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		CACNB2	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CAT	Unknown	—	Disgenet	Tryptophan metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways +11 more
		CYBA	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
		CYBB	Unknown	—	Disgenet	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		ECE1	Unknown	—	Disgenet	Peptide ligand-binding receptors
		PTGIS	Unknown	—	Disgenet	Arachidonic acid metabolism Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +6 more
TREATMENT-RESISTANT HYPERTENSION	EFO_1002006	ATP2B1	Unknown	38162683	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		CACNA1D	Unknown	34593835 37151119	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CASZ1	Unknown	31545351 37151119	GWAS catalog	—
		CNNM2	Unknown	37151119	GWAS catalog	—

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