Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COLORECTAL CANCER	114500 MONDO:0005575 MONDO_0005575	APC	Causal	30510241 38408508	ClinVar, GWAS catalog, HPO	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +28 more
		AXIN2	Causal	9087566 14504054 17151091 10882759 12655564 9611074 12132870 18033691 10598809 8872463 15994075 9065402 14961575 9559627 12792735 7898930 21917714 17000706 10413423 24308539 9989816 22102614 11470537 12522549 16959974 23263490 11317354 15996210 14520694	ClinVar, HPO	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BLM	Causal	11101838 12242432 12242442 14642567 15064730 26358404 27356891 29386092 29478780 30871259	ClinGen, GWAS catalog	Homologous recombination Fanconi anemia pathway Processive synthesis on the C-strand of the telomere +10 more
		BRAF	Causal	11470537 16959974 11317354 15996210 14520694 10699937 12738854 12522549 11807791 21917714 10537275 11709755 19218458 14504054 22102614 9989816 24308539 7898930 12792735 9559627 14961575 12655564 11153917 18033691 10413423 17000706 12132870 9611074	ClinVar, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		BRCA2	Causal	27197191 34290314	GWAS catalog	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CDH1	Causal	19011631 29917119 31089142 38872215	GWAS catalog	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		CTNNB1	Causal	12738854 12522549 14504054 10699937 16959974 14520694 15996210 11317354 23263490 24455489 11017067 12132870 15483016 16407113 21917714 17000706 7898930 11153917 10537275 11709755 19218458 11470537 22102614 9989816 15930273 24308539 10413423 9087566	ClinVar, HPO	Rap1 signaling pathway Wnt signaling pathway Hippo signaling pathway +51 more
		DCC	Causal	—	ClinVar, HPO	Axon guidance Pathways in cancer Colorectal cancer +3 more
		EP300	Causal	—	ClinVar, HPO	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		FANCA	Causal	32887889 33893285 34290314	GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
		FGFR2	Causal	27197191 32887889 34290314 37340002	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
		FLCN	Causal	—	ClinVar, GenCC, HPO	mTOR signaling pathway Renal cell carcinoma Amino acids regulate mTORC1
		MLH3	Causal	9087566 8872463 10598809 18033691 12132870 10537275 12655564 12522549 11470537 19218458 11709755 17151091 15930273 7898930 12792735 9559627 14961575 10413423 15483016 16959974 16407113 9032648 15994075 21917714 9611074 24455489 14504054 17000706 10882759	ClinVar, HPO	Mismatch repair
		MUTYH	Causal	—	ClinGen	Base excision repair Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine +2 more
		NRAS	Causal	—	ClinVar, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PALB2	Causal	34290314	GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		PIK3CA	Causal	12655564 12738854 16407113 16959974 15483016 12198537 11017067 24455489 23263490 11153917 9611074 10882759 12522549 9032648 10699937 14520694 15996210 11317354 14504054 15994075 17151091 15930273 9065402 8872463 9087566 10598809 18033691 12132870	ClinVar, HPO	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		RBFOX1	Causal	29228715	GWAS catalog	—
		TP53	Causal	28346444 32887889	ClinVar, GWAS catalog, GenCC	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
FAMILIAL COLORECTAL CANCER TYPE X	440437	ATM	Causal	36370464	Orphanet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		BRCA2	Causal	36370464	Orphanet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		MUTYH	Causal	23007840 24691292	Orphanet	Base excision repair Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine +2 more
		POLE	Causal	23263490 36370464	Orphanet	DNA replication Base excision repair Nucleotide excision repair +10 more

Colorectal cancer

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