Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ABCA1	Unknown	39024449	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
		ABCA6	Unknown	39024449	GWAS catalog	ABC transporters ABC transporters in lipid homeostasis FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
		ABCG8	Unknown	39024449	GWAS catalog	ABC transporters Fat digestion and absorption Bile secretion +5 more
		ABO	Unknown	39024449	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
		AGO2	Unknown	39024449	GWAS catalog	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Ca2+ pathway +11 more
		APOA5	Unknown	40465716	GWAS catalog	PPAR signaling pathway PPARA activates gene expression Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +2 more
		APOB	Unknown	39024449	GWAS catalog	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
		APOE	Unknown	39024449	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		APOL1	Unknown	39024449	GWAS catalog	African trypanosomiasis Scavenging of heme from plasma Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		ARAP2	Unknown	35096005	GWAS catalog	Endocytosis Rho GTPase cycle
		ARL15	Unknown	39024449	GWAS catalog	—
		ASGR2	Unknown	39024449	GWAS catalog	Thyroid hormone synthesis Asparagine N-linked glycosylation
		ATP8B4	Unknown	35096005	GWAS catalog	Neutrophil degranulation Ion transport by P-type ATPases
		BANF2	Unknown	39024449	GWAS catalog	—
		BICC1	Unknown	40465716	GWAS catalog	—
		BMPR2	Unknown	39024449	GWAS catalog	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		BNC2	Unknown	39024449	GWAS catalog	—
		CARMIL1	Unknown	34737426 39024449	GWAS catalog	Factors involved in megakaryocyte development and platelet production
		CBLN2	Unknown	40465716	GWAS catalog	—
		CCDC196	Unknown	39024449	GWAS catalog	—
		CELSR2	Unknown	39024449	GWAS catalog	—
		CEP68	Unknown	39024449	GWAS catalog	—
		CERT1	Unknown	39024449	GWAS catalog	Sphingolipid de novo biosynthesis
		CETP	Unknown	39024449	GWAS catalog	Cholesterol metabolism LDL remodeling HDL remodeling +1 more
		COBLL1	Unknown	39024449	GWAS catalog	—
		CYP26A1	Unknown	39024449	GWAS catalog	Retinol metabolism Metabolic pathways Vitamins +1 more
		CYP7A1	Unknown	39024449	GWAS catalog	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways +8 more
		DDX10	Unknown	39024449	GWAS catalog	—
		DDX56	Unknown	39024449	GWAS catalog	—
		DGKG	Unknown	39024449	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		DNAH11	Unknown	39024449	GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DOCK7	Unknown	39024449	GWAS catalog	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
		DOK7	Unknown	39024449	GWAS catalog	—
		DTWD1	Unknown	35096005	GWAS catalog	—
		E2F3	Unknown	39024449	GWAS catalog	Endocrine resistance Cell cycle Cellular senescence +26 more
		EIF4G1	Unknown	39024449	GWAS catalog	Viral myocarditis ISG15 antiviral mechanism L13a-mediated translational silencing of Ceruloplasmin expression +9 more
		EMCN	Unknown	39024449	GWAS catalog	—
		FADS1	Unknown	39024449	GWAS catalog	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +3 more
		FADS2	Unknown	39024449	GWAS catalog	alpha-Linolenic acid metabolism Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
		FAM81A	Unknown	35096005	GWAS catalog	—
		FARS2	Unknown	29326872 29126765 28043061 27549011 27095821	HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		FECH	Unknown	35096005	GWAS catalog	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		FTO	Unknown	39024449	GWAS catalog	Reversal of alkylation damage by DNA dioxygenases
		FZD10	Unknown	40465716	GWAS catalog	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +12 more
		GALK2	Unknown	35096005	GWAS catalog	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars
		GAREM1	Unknown	39024449	GWAS catalog	—
		GCKR	Unknown	39024449	GWAS catalog	Regulation of Glucokinase by Glucokinase Regulatory Protein Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
		GIP	Unknown	39024449	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +5 more
		GRB14	Unknown	39024449	GWAS catalog	Tie2 Signaling
		GRM3	Unknown	39024449	GWAS catalog	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +3 more
METABOLIC DISEASES	C0025517	FARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
METABOLIC SYNDROME	EFO_0000195	ABCA1	Unknown	22399527 31589552 39349817	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
		ABCG8	Unknown	33893285	GWAS catalog	ABC transporters Fat digestion and absorption Bile secretion +5 more
		ABO	Unknown	33893285	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
		APOA5	Unknown	21386085 28371326 29212154 30382898 31170924 31910446 33500527 35121771 36419087 38201907 39349817	GWAS catalog	PPAR signaling pathway PPARA activates gene expression Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +2 more
		APOB	Unknown	22399527 31589552 33893285 39349817	GWAS catalog	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
		APOE	Unknown	31589552 35121771 36419087 38201907 39349817	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ARAP2	Unknown	31589552	GWAS catalog	Endocytosis Rho GTPase cycle
		ARL15	Unknown	39349817	GWAS catalog	—
		BNC2	Unknown	39349817	GWAS catalog	—
		CELSR2	Unknown	33893285 39349817	GWAS catalog	—
		CERT1	Unknown	33893285	GWAS catalog	Sphingolipid de novo biosynthesis
		CETP	Unknown	20694148 21386085 22399527 31589552 33500527 33893285 38201907 39349817	GWAS catalog	Cholesterol metabolism LDL remodeling HDL remodeling +1 more
		COBLL1	Unknown	31589552 39349817	GWAS catalog	—
		DDX56	Unknown	39349817	GWAS catalog	—
		DGKG	Unknown	39349817	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		E2F3	Unknown	39349817	GWAS catalog	Endocrine resistance Cell cycle Cellular senescence +26 more
		FADS1	Unknown	20694148 39349817	GWAS catalog	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +3 more
		FADS2	Unknown	20694148 31589552 39349817	GWAS catalog	alpha-Linolenic acid metabolism Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
		FTO	Unknown	22399527 31589552 38201907 39349817	GWAS catalog	Reversal of alkylation damage by DNA dioxygenases
		GCKR	Unknown	21386085 22399527 29632305 30382898 31589552 33500527 33893285	GWAS catalog	Regulation of Glucokinase by Glucokinase Regulatory Protein Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)

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Metabolic syndrome

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