Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	C2936783	ATM	Unknown	—	Disgenet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		CHEK2	Unknown	—	Disgenet	Cell cycle p53 signaling pathway Cellular senescence +9 more
		EPCAM	Unknown	—	Disgenet	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
		FBXO11	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		KCNK12	Unknown	—	Disgenet	Phase 4 - resting membrane potential
		MLH1	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
		MLH3	Unknown	—	Disgenet	Mismatch repair
		MSH2	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		MSH6	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		MUTYH	Unknown	—	Disgenet	Base excision repair Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine +2 more
		PALB2	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		PMS1	Unknown	—	Disgenet	—
		PMS2	Unknown	—	Disgenet	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		RAD51D	Unknown	—	Disgenet	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +4 more
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2		MLH1	Causal	—	ClinVar	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	C1838333 MESH:C563971	MSH2	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		MSH6	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		PMS2	Unknown	—	CTD, Disgenet	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		RB1	Unknown	—	Disgenet	Endocrine resistance Cell cycle Cellular senescence +30 more
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	C1833477 MESH:C563456	FBXO11	Unknown	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		KMT2D	Unknown	—	Disgenet	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		MLH1	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
		MSH6	Unknown	—	CTD, Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		PMS2	Unknown	—	Disgenet	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		RYR1	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	614331 MESH:C566039 MONDO:0013695	TGFBR2	Causal	—	CTD, ClinVar, HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7	614385 MESH:C565777 MONDO:0013725	MLH3	Causal	—	CTD, ClinGen, ClinVar, GenCC, HPO	Mismatch repair
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	C2750471 MESH:C567685	EPCAM	Unknown	—	CTD, Disgenet	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	C1333991	MLH1	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	C1333991	MSH2	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
HEREDITARY NONPOLYPOSIS COLON CANCER	MONDO:0018630	CHEK2	Causal	—	ClinGen, GenCC	Cell cycle p53 signaling pathway Cellular senescence +9 more
		ATM	Unknown	—	GenCC	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		CDKN1B	Unknown	—	ClinGen, GenCC	Endocrine resistance ErbB signaling pathway HIF-1 signaling pathway +28 more
		EPHX1	Unknown	—	ClinGen, GenCC	Metabolism of xenobiotics by cytochrome P450 Bile secretion Chemical carcinogenesis - DNA adducts +3 more
		FAN1	Unknown	—	ClinGen, GenCC	Fanconi anemia pathway Fanconi Anemia Pathway
		NFKBIZ	Unknown	—	ClinGen, GenCC	Transcriptional misregulation in cancer
		PTPRJ	Unknown	28316102	ClinGen, GWAS catalog	Adherens junction Chemical carcinogenesis - reactive oxygen species Phosphorylation of CD3 and TCR zeta chains +2 more
		RPS20	Unknown	—	GenCC	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		SMARCA4	Unknown	—	ClinGen, GenCC	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		XRCC4	Unknown	—	ClinGen, GenCC	Non-homologous end-joining 2-LTR circle formation SUMOylation of DNA damage response and repair proteins +1 more
LYNCH SYNDROME	144 C4552100 MONDO:0005835	MLH1	Causal	12919137 7584997 8128251 12124320 9245993 4063166 9831355 21785361 9927034 15571801 2022152 14635101 20533529 10598809 15923275 20858721 16341550 9927033 8145827 19142183 12112654 28754778 20301390 23100212 26149658	ClinGen, ClinVar, Disgenet, Orphanet	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
		MSH2	Causal	10528862 12694232 22781090 7874129 8723682 10051005 8261515 23170986 12658575 7937795 16451135 15042510 28754778 20301390 22234272 26076155	ClinGen, ClinVar, Disgenet, Orphanet	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		MSH6	Causal	20301390 25318681 9354786 10508506 7604266 8075649 28754778	ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		PMS2	Causal	10753224 15872200 15887124 16619239 18602922 20301390 20624957 23012243 23709753 24027009 27435373 30161022 31860975 31992580 34489406 8072530	ClinGen, ClinVar, Disgenet, Orphanet	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		ACVR2A	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells +3 more
		APC	Unknown	—	Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +28 more
		ASTE1	Unknown	—	Disgenet	—
		CD44	Unknown	—	Disgenet	ECM-receptor interaction Hematopoietic cell lineage Shigellosis +9 more
		E2F4	Unknown	—	Disgenet	Cell cycle Cellular senescence TGF-beta signaling pathway +8 more
		EPCAM	Unknown	19098912 19177550 20301390 21769135 23530899 23938213 24309898	ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
		EXO1	Unknown	—	ClinGen, Disgenet	Mismatch repair Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) HDR through Single Strand Annealing (SSA) +8 more
		FAN1	Unknown	26052075	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway
		GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		KRAS	Unknown	19731079	Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		MARCKS	Unknown	—	Disgenet	Fc gamma R-mediated phagocytosis MicroRNAs in cancer Acetylcholine regulates insulin secretion
		MLH3	Unknown	—	Disgenet	Mismatch repair
		MRE11	Unknown	—	Disgenet	Homologous recombination Non-homologous end-joining Cellular senescence +16 more
		MSH3	Unknown	—	ClinGen, Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		PIK3CA	Unknown	19731079	Disgenet, Orphanet	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PMS1	Unknown	—	ClinGen, Disgenet, Orphanet	—
		RNASEL	Unknown	—	Disgenet	NOD-like receptor signaling pathway Hepatitis C Influenza A +3 more
		RNASET2	Unknown	—	Disgenet	Neutrophil degranulation
		RPS20	Unknown	24941021 32424863 33193653	ClinGen, Disgenet, GWAS catalog	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
		SEMA4A	Unknown	—	ClinGen, Disgenet	Axon guidance Other semaphorin interactions
		SLC22A9	Unknown	—	Disgenet	—
		SMAD2	Unknown	—	Disgenet	Cell cycle Endocytosis Cellular senescence +30 more
		SMAD3	Unknown	—	Disgenet	FoxO signaling pathway Cell cycle Endocytosis +34 more
		SMAD4	Unknown	—	Disgenet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
		TAF1B	Unknown	—	Disgenet	B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape +1 more
		TCF4	Unknown	—	Disgenet	Myogenesis
		TGFBR1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Unknown	—	Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
LYNCH SYNDROME 1	MONDO:0007356 120435	MLH1	Causal	10498885 120436 12637487 15713769 15772852 16083711 17510385 18398828 18554281 19215248 19900449 20301390 21642682 23091106 23255516 24084575 24362816 26101330 26385421 26657901 27013479 28754778 28772289 31337882 7903889 7942843	GWAS catalog	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
		MSH2	Causal	—	ClinVar, GenCC, HPO	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		PMS1	Unknown	—	ClinVar, HPO	—
LYNCH SYNDROME 2	609310 MONDO:0012249	MLH1	Unknown	—	GenCC, HPO	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
LYNCH SYNDROME 4	614337 MONDO:0013699	PMS2	Causal	15887124 14756672 16472587 18178629 28754778	CTD, ClinVar, HPO, ClinGen	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
LYNCH SYNDROME 5	614350 MONDO:0013710	MSH6	Causal	10508506 28754778 7604266 8075649 9354786	ClinVar, GenCC, HPO, ClinGen	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
LYNCH SYNDROME 8	613244 MONDO:0013196	EPCAM	Causal	—	ClinVar, GenCC, HPO	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
LYNCH SYNDROME I	MESH:C537261	EPCAM	Unknown	19098912	CTD, ClinGen	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
		MSH2	Unknown	19098912	CTD, ClinGen	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		PMS1	Unknown	—	CTD	—
LYNCH SYNDROME II	MESH:D055847	MLH1	Unknown	25077178	CTD, ClinGen	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more

Lynch syndrome

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