Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DIABETES MELLITUS TYPE 2 ASSOCIATED CATARACT	EFO_0004596	CCDC102A	Unknown	23137000	GWAS catalog	—
DIABETES MELLITUS TYPE 2 ASSOCIATED CATARACT	EFO_0004596	PPARD	Unknown	23137000	GWAS catalog	PPAR signaling pathway Efferocytosis Wnt signaling pathway +6 more
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	C0011860	ABCA1	Unknown	—	Disgenet	ABC transporters Efferocytosis Fat digestion and absorption +6 more
		ABCB1	Unknown	—	Disgenet	ABC transporters Bile secretion MicroRNAs in cancer +2 more
		ABCC8	Unknown	—	Disgenet	ABC transporters Insulin secretion Type II diabetes mellitus +3 more
		ACE	Unknown	—	Disgenet	Renin-angiotensin system Renin secretion Chagas disease +4 more
		ACP1	Unknown	—	Disgenet	Thiamine metabolism Riboflavin metabolism Metabolic pathways +2 more
		ADAM17	Unknown	—	Disgenet	Efferocytosis Notch signaling pathway TNF signaling pathway +10 more
		ADAMTS9	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADCY5	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Endocrine resistance +66 more
		ADIPOQ	Unknown	—	Disgenet	PPAR signaling pathway Hormone signaling AMPK signaling pathway +7 more
		ADIPOR2	Unknown	—	Disgenet	Hormone signaling AMPK signaling pathway Longevity regulating pathway +4 more
		ADRA2A	Unknown	—	Disgenet	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
		ADRA2B	Unknown	—	Disgenet	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +4 more
		ADRB3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +9 more
		AGER	Unknown	—	Disgenet	Efferocytosis Neutrophil extracellular trap formation AGE-RAGE signaling pathway in diabetic complications +7 more
		AGRP	Unknown	—	Disgenet	Adipocytokine signaling pathway
		AHSG	Unknown	—	Disgenet	Platelet degranulation Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Neutrophil degranulation +1 more
		AKR1B1	Unknown	—	Disgenet	Pentose and glucuronate interconversions Fructose and mannose metabolism Galactose metabolism +5 more
		AKT1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		AKT2	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +122 more
		ALDH2	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		ALDOB	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism +8 more
		AP3S2	Unknown	—	Disgenet	Lysosome
		APOA5	Unknown	—	Disgenet	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	—	Disgenet	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
		APOD	Unknown	—	Disgenet	Transport of fatty acids NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
		APOM	Unknown	—	Disgenet	Retinoid metabolism and transport
		ASIP	Unknown	—	Disgenet	Melanogenesis
		ATF3	Unknown	—	Disgenet	Response of EIF2AK1 (HRI) to heme deficiency
		ATP2A2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		ATP2A3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		AUTS2	Unknown	—	Disgenet	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		AXL	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Efferocytosis VEGFA-VEGFR2 Pathway
		BAX	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +52 more
		ENPP1	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
		GCK	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +16 more
		GPD2	Unknown	—	Disgenet	Glycerophospholipid metabolism Synthesis of PA Triglyceride catabolism
		HNF1B	Unknown	—	Disgenet	Maturity onset diabetes of the young
		HNF4A	Unknown	—	Disgenet	AMPK signaling pathway Maturity onset diabetes of the young Nuclear Receptor transcription pathway
		INS	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +39 more
		INSR	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +26 more
		IRS1	Unknown	—	Disgenet	cGMP-PKG signaling pathway FoxO signaling pathway Hormone signaling +30 more
		KCNJ11	Unknown	—	Disgenet	Insulin secretion GnRH secretion Type II diabetes mellitus +6 more
		NEUROD1	Unknown	—	Disgenet	Maturity onset diabetes of the young Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
		PDX1	Unknown	—	Disgenet	Insulin secretion Type II diabetes mellitus Maturity onset diabetes of the young
		PPARD	Unknown	—	Disgenet	PPAR signaling pathway Efferocytosis Wnt signaling pathway +6 more
		PPARG	Unknown	—	Disgenet	PPAR signaling pathway Efferocytosis AMPK signaling pathway +13 more
		RBPJ	Unknown	—	Disgenet	Notch signaling pathway Th1 and Th2 cell differentiation Spinocerebellar ataxia +12 more
		SLC2A2	Unknown	—	Disgenet	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
		WFS1	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
DIABETES MELLITUS, NONINSULIN-DEPENDENT	MONDO:0007455	ABCC8	Unknown	—	GenCC	ABC transporters Insulin secretion Type II diabetes mellitus +3 more
		AKT2	Unknown	—	GenCC	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +122 more
		GCK	Unknown	—	GenCC	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +16 more
		HNF1B	Unknown	—	GenCC	Maturity onset diabetes of the young
		HNF4A	Unknown	—	GenCC	AMPK signaling pathway Maturity onset diabetes of the young Nuclear Receptor transcription pathway
		KCNJ11	Unknown	—	GenCC	Insulin secretion GnRH secretion Type II diabetes mellitus +6 more
DIABETES MELLITUS, TYPE 2	MESH:D003924	ABCC8	Unknown	22209866 9568693	CTD	ABC transporters Insulin secretion Type II diabetes mellitus +3 more
		ADAMTS9	Unknown	18372903 23967108	CTD	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADCY5	Unknown	20081858 23202124	CTD	Purine metabolism Metabolic pathways Endocrine resistance +66 more
		ADIPOQ	Unknown	12114044 12354786 15734870	CTD	PPAR signaling pathway Hormone signaling AMPK signaling pathway +7 more
		AKT1	Unknown	31626838	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		AKT2	Unknown	—	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +122 more
		AP3S2	Unknown	21874001	CTD	Lysosome
		ATF3	Unknown	16123366	CTD	Response of EIF2AK1 (HRI) to heme deficiency
		ATP2A2	Unknown	16123366	CTD	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		ATP2A3	Unknown	16123366	CTD	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		AUTS2	Unknown	30718926	CTD	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		BAX	Unknown	31626838	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +52 more
		ENPP1	Unknown	—	CTD	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
		GCK	Unknown	15102714 15161764 16123366 20081858	CTD	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +16 more
		GPD2	Unknown	16123366	CTD	Glycerophospholipid metabolism Synthesis of PA Triglyceride catabolism
		HNF1B	Unknown	17603485	CTD	Maturity onset diabetes of the young
		HNF4A	Unknown	17317762 21874001 22158537	CTD	AMPK signaling pathway Maturity onset diabetes of the young Nuclear Receptor transcription pathway
		INS	Unknown	11522680 11978674 15531508 16259526 16519038 21680998 21779873 23349674 3511099 7573102	CTD	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +39 more
		IRS1	Unknown	10430617 12679424 15688983 19734900 28869590 8104271 8723689	CTD	cGMP-PKG signaling pathway FoxO signaling pathway Hormone signaling +30 more
		KCNJ11	Unknown	16123366 22209866	CTD	Insulin secretion GnRH secretion Type II diabetes mellitus +6 more
		NEUROD1	Unknown	16123366	CTD	Maturity onset diabetes of the young Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
		PDX1	Unknown	16123366 24464100	CTD	Insulin secretion Type II diabetes mellitus Maturity onset diabetes of the young
		PPARG	Unknown	15592662 16123366 16249460 17317762 21484566 28182703 31626838	CTD	PPAR signaling pathway Efferocytosis AMPK signaling pathway +13 more
		SLC2A2	Unknown	16123366	CTD	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
		WFS1	Unknown	17603484	CTD	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
INSULIN RESISTANCE	MESH:D007333	INSR	Causal	10949030 11887975	CTD	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +26 more
		ADIPOQ	Unknown	18931039 21484566	CTD	PPAR signaling pathway Hormone signaling AMPK signaling pathway +7 more
		INS	Unknown	11522680 24648896 25796170 33651899	CTD	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +39 more
		IRS1	Unknown	19734900	CTD	cGMP-PKG signaling pathway FoxO signaling pathway Hormone signaling +30 more
		KCNJ11	Unknown	9032110	CTD	Insulin secretion GnRH secretion Type II diabetes mellitus +6 more
		PPARG	Unknown	16168052 21354099 21484566	CTD	PPAR signaling pathway Efferocytosis AMPK signaling pathway +13 more
TYPE 2 DIABETES MELLITUS	125853 MONDO:0005148 MONDO_0005148	ABCC8	Causal	12524541 18346985 21214702 22885922 23926410 24959012 25048417 27167055 27810688 29112131 29207974 29358691 30297969 30595370 31264968 31479591 31658956 32499647 32514122 32541925 34594039 38685053 39024449 39379762 8635661 907581	ClinVar, Disgenet, GWAS catalog, HPO	ABC transporters Insulin secretion Type II diabetes mellitus +3 more
		AKT2	Causal	15166380	ClinVar, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +122 more
		ENPP1	Causal	—	ClinVar	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
		GCK	Causal	22399527 23575436 28869590 32541925 34594039 38062574 38201907 38374256 38685053 39024449 39349817 39379762	ClinVar, GWAS catalog, HPO	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +16 more
		GPD2	Causal	—	ClinVar	Glycerophospholipid metabolism Synthesis of PA Triglyceride catabolism
		HNF1B	Causal	20581827 22885922 22961080 23945395 24509480 26818947 28869590 30054458 30297969 30595370 30718926 32499647 32514122 32541925 34594039 35393509 35551307 38374256 38685053 39024449 39379762 40465716	ClinVar, GWAS catalog, HPO	Maturity onset diabetes of the young
		HNF4A	Causal	21874001 24509480 28869590 29632382 30054458 30297969 30595370 30718926 31118516 31589552 32499647 32514122 32541925 34594039 35393509 35551307 36738649 38374256 38685053 39349817 39379762 40465716	ClinVar, GWAS catalog	AMPK signaling pathway Maturity onset diabetes of the young Nuclear Receptor transcription pathway
		INS	Causal	21829393 25751624 30254083 30297969 30659077 31152121 32005708 34594039 34737425 38374256 38453145 39749473 40569436	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +39 more
		INSR	Causal	30297969 32499647 32541925 38374256 39349817 39379762	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +26 more
		IRS1	Causal	—	ClinVar	cGMP-PKG signaling pathway FoxO signaling pathway Hormone signaling +30 more
		KCNJ11	Causal	17463246 17463248 17463249 18372903 19056611 22885922 24509480 28869590 29632382 30054458 30297969 30595370 30718926 31118516 32341051 32541925 33385400 34594039 35551307 38374256 39379762	ClinVar, GWAS catalog	Insulin secretion GnRH secretion Type II diabetes mellitus +6 more
		NEUROD1	Causal	—	ClinVar	Maturity onset diabetes of the young Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
		PDX1	Causal	—	ClinVar	Insulin secretion Type II diabetes mellitus Maturity onset diabetes of the young
		PPARG	Causal	17463246 17463248 17463249 22885922 24509480 28869590 29358691 29632382 30054458 30297969 30595370 30718926 31118516 32499647 32541925 33619380 33893285 34594039 35393509 35551307 38062574 38374256 38685053 39024449 39349817 39379	ClinVar, GWAS catalog	PPAR signaling pathway Efferocytosis AMPK signaling pathway +13 more
		RBPJ	Causal	36292730 39349817	GWAS catalog	Notch signaling pathway Th1 and Th2 cell differentiation Spinocerebellar ataxia +12 more
		SLC2A2	Causal	28566273 30054458 30297969 32541925 35551307 36738649 38374256 39024449 39379762	ClinVar, GWAS catalog	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
		WFS1	Causal	19734900 20581827 22885922 24509480 28869590 29358691 29632382 30054458 30297969 30595370 32499647 32541925 34594039 34737425 35018440 35551307 38374256 38685053 39024449 39349817 39379762 40210677 40465716	ClinVar, GWAS catalog	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		ABCA1	Unknown	22399527 31589552 32499647 39349817	GWAS catalog	ABC transporters Efferocytosis Fat digestion and absorption +6 more
		ACE	Unknown	32541925 38374256 39349817	GWAS catalog	Renin-angiotensin system Renin secretion Chagas disease +4 more
		ADCY5	Unknown	22693455 22885922 24509480 26818947 28254843 28869590 29358691 30054458 30297969 30595370 32499647 32541925 33619380 34594039 34737425 35393509 35551307 35771237 35893037 36187959 38374256 38685053 39024449 39379762 40210677	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +66 more
		ADRA2A	Unknown	38374256 38685053 39349817	GWAS catalog	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
		AGER	Unknown	26083729 38773223	GWAS catalog	Efferocytosis Neutrophil extracellular trap formation AGE-RAGE signaling pathway in diabetic complications +7 more
		ALDH2	Unknown	28371326 38374256	GWAS catalog	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		AP3S2	Unknown	21874001 23945395 24509480 28869590 29358691 30054458 30297969 30595370 30718926 32499647 32514122 32541925 33290408 34594039 35551307 36738649 38374256 39024449 39379762	GWAS catalog	Lysosome
		APOA5	Unknown	21386085 28371326 29212154 30382898 31170924 31910446 35121771 38201907 38374256 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 39349817	GWAS catalog	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
		ATP2A2	Unknown	39349817	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		ATP2A3	Unknown	30297969 34737425 35551307 38374256 38685053 39379762	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +16 more
		AUTS2	Unknown	30718926 32499647 32514122 32541925 34594039 38374256 38685053 39024449 39349817 40465716	GWAS catalog	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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Diabetes mellitus type 2

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