Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ABDOMINAL OBESITY-METABOLIC SYNDROME 3	MONDO:0014352	DYRK1B	Causal	—	GenCC	—
ABDOMINAL OBESITY-METABOLIC SYNDROME 4	MONDO:0032837	CELA2A	Causal	—	GenCC	Pancreatic secretion Protein digestion and absorption Formation of the cornified envelope
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ABCA1	Unknown	39024449	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ABCA6	Unknown	39024449	GWAS catalog	ABC transporters ABC transporters in lipid homeostasis FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ABCG8	Unknown	39024449	GWAS catalog	ABC transporters Fat digestion and absorption Bile secretion +5 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ABO	Unknown	39024449	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	AGO2	Unknown	39024449	GWAS catalog	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Ca2+ pathway +11 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	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
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	APOB	Unknown	39024449	GWAS catalog	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	APOE	Unknown	39024449	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	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
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ARAP2	Unknown	35096005	GWAS catalog	Endocytosis Rho GTPase cycle
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ARL15	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ASGR2	Unknown	39024449	GWAS catalog	Thyroid hormone synthesis Asparagine N-linked glycosylation
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	ATP8B4	Unknown	35096005	GWAS catalog	Neutrophil degranulation Ion transport by P-type ATPases
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	BANF2	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	BICC1	Unknown	40465716	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	BMPR2	Unknown	39024449	GWAS catalog	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	BNC2	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CARMIL1	Unknown	34737426 39024449	GWAS catalog	Factors involved in megakaryocyte development and platelet production
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CBLN2	Unknown	40465716	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CCDC196	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CELSR2	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CEP68	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CERT1	Unknown	39024449	GWAS catalog	Sphingolipid de novo biosynthesis
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CETP	Unknown	39024449	GWAS catalog	Cholesterol metabolism LDL remodeling HDL remodeling +1 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	COBLL1	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CYP26A1	Unknown	39024449	GWAS catalog	Retinol metabolism Metabolic pathways Vitamins +1 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	CYP7A1	Unknown	39024449	GWAS catalog	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways +8 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DDX10	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DDX56	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DGKG	Unknown	39024449	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DNAH11	Unknown	39024449	GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DOCK7	Unknown	39024449	GWAS catalog	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DOK7	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	DTWD1	Unknown	35096005	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	E2F3	Unknown	39024449	GWAS catalog	Endocrine resistance Cell cycle Cellular senescence +26 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	EIF4G1	Unknown	39024449	GWAS catalog	Viral myocarditis ISG15 antiviral mechanism L13a-mediated translational silencing of Ceruloplasmin expression +9 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	EMCN	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FADS1	Unknown	39024449	GWAS catalog	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +3 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FADS2	Unknown	39024449	GWAS catalog	alpha-Linolenic acid metabolism Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FAM81A	Unknown	35096005	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FARS2	Unknown	29326872 29126765 28043061 27549011 27095821	HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FECH	Unknown	35096005	GWAS catalog	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors +1 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FTO	Unknown	39024449	GWAS catalog	Reversal of alkylation damage by DNA dioxygenases
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	FZD10	Unknown	40465716	GWAS catalog	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +12 more
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	GALK2	Unknown	35096005	GWAS catalog	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	GAREM1	Unknown	39024449	GWAS catalog	—
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	GCKR	Unknown	39024449	GWAS catalog	Regulation of Glucokinase by Glucokinase Regulatory Protein Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
METABOLIC DISEASE	EFO_0000589 MONDO:0005066	GIP	Unknown	39024449	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +5 more
METABOLIC DISEASES	C0025517	FARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	ABCA1	Unknown	22399527 31589552 39349817	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	ABCG8	Unknown	33893285	GWAS catalog	ABC transporters Fat digestion and absorption Bile secretion +5 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	ABO	Unknown	33893285	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	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
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	APOB	Unknown	22399527 31589552 33893285 39349817	GWAS catalog	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	APOE	Unknown	31589552 35121771 36419087 38201907 39349817	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	ARAP2	Unknown	31589552	GWAS catalog	Endocytosis Rho GTPase cycle
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	ARL15	Unknown	39349817	GWAS catalog	—
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	BNC2	Unknown	39349817	GWAS catalog	—
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	CELA2A	Unknown	31358993	CTD	Pancreatic secretion Protein digestion and absorption Formation of the cornified envelope
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	CELSR2	Unknown	33893285 39349817	GWAS catalog	—
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	CERT1	Unknown	33893285	GWAS catalog	Sphingolipid de novo biosynthesis
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	CETP	Unknown	20694148 21386085 22399527 31589552 33500527 33893285 38201907 39349817	GWAS catalog	Cholesterol metabolism LDL remodeling HDL remodeling +1 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	COBLL1	Unknown	31589552 39349817	GWAS catalog	—
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	DDX56	Unknown	39349817	GWAS catalog	—
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	DGKG	Unknown	39349817	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	E2F3	Unknown	39349817	GWAS catalog	Endocrine resistance Cell cycle Cellular senescence +26 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	FADS1	Unknown	20694148 39349817	GWAS catalog	Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism +3 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	FADS2	Unknown	20694148 31589552 39349817	GWAS catalog	alpha-Linolenic acid metabolism Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	FTO	Unknown	22399527 31589552 38201907 39349817	GWAS catalog	Reversal of alkylation damage by DNA dioxygenases
METABOLIC SYNDROME	EFO_0000195 MESH:D024821	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)
METABOLIC SYNDROME X	C0524620	CELA2A	Unknown	—	Disgenet	Pancreatic secretion Protein digestion and absorption Formation of the cornified envelope

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Metabolic syndrome

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