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 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 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	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	C4552100 144 MONDO:0005835	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	120435 MONDO:0007356	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 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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