Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COLON CARCINOMA	EFO_1001950	CNTNAP2	Unknown	39024449	GWAS catalog	Cell adhesion molecules
		CRISPLD1	Unknown	32887889	GWAS catalog	—
		EIF3H	Unknown	39024449	GWAS catalog	Measles L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation +4 more
		FAM118A	Unknown	33632709	GWAS catalog	—
		GREM1	Unknown	39024449	GWAS catalog	TGF-beta signaling pathway
		GRIK2	Unknown	35984985	GWAS catalog	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
		KIAA1671	Unknown	35984985	GWAS catalog	—
		ODF1	Unknown	32887889	GWAS catalog	—
		PCSK5	Unknown	35984985	GWAS catalog	NGF processing Assembly of active LPL and LIPC lipase complexes
		PI15	Unknown	32887889	GWAS catalog	—
		PIWIL3	Unknown	35984985 37539667	GWAS catalog	—
		POU5F1B	Unknown	32887889 39024449	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		PREX1	Unknown	32887889	GWAS catalog	Chemokine signaling pathway Kaposi sarcoma-associated herpesvirus infection NRAGE signals death through JNK +2 more
		RGL1	Unknown	32887889	GWAS catalog	Ras signaling pathway PPARA activates gene expression
		RHPN2	Unknown	32887889	GWAS catalog	RHO GTPases Activate Rhotekin and Rhophilins
		SMAD7	Unknown	32887889 39024449	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
		STEAP3	Unknown	33203692	GWAS catalog	p53 signaling pathway Ferroptosis TP53 Regulates Transcription of Genes Involved in Cytochrome C Release +1 more
		SYMPK	Unknown	28295283	GWAS catalog	mRNA surveillance pathway Tight junction Transport of Mature mRNA Derived from an Intronless Transcript +4 more
		TWF2	Unknown	33632709	GWAS catalog	—
		UTP23	Unknown	32887889	GWAS catalog	—
		WIPF2	Unknown	33203692	GWAS catalog	Endocytosis Pathogenic Escherichia coli infection Yersinia infection +3 more
		WIPF3	Unknown	35984985	GWAS catalog	Endocytosis Pathogenic Escherichia coli infection Yersinia infection +3 more
		ZCWPW2	Unknown	32887889	GWAS catalog	—
COLORECTAL ADENOCARCINOMA	EFO_0000365	SMAD7	Unknown	32324875	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
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
		A1CF	Unknown	30510241 36539618 38538606 38872215	GWAS catalog	mRNA Editing: C to U Conversion Formation of the Editosome
		ABCA12	Unknown	36077729 38411962	GWAS catalog	ABC transporters ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
		ABCC4	Unknown	31826910	GWAS catalog	Antifolate resistance ABC transporters cAMP signaling pathway +4 more
		ABHD11	Unknown	36539618	GWAS catalog	—
		ABHD12B	Unknown	36539618 38872215	GWAS catalog	—
		ABL1	Unknown	35512400	GWAS catalog	ErbB signaling pathway Ras signaling pathway Cell cycle +17 more
		ACAD10	Unknown	32514122	GWAS catalog	Mitochondrial Fatty Acid Beta-Oxidation
		ACCSL	Unknown	38411962	GWAS catalog	—
		EIF3H	Unknown	18372905 21761138 24737748 24836286 26151821 26965516 29471430 29917119 30510241 30529582 31089142 31826910 32514122 32887889 34594039 34671089 36539618 37340002 38408508 38538606 38872215 39024449 39392253	GWAS catalog	Measles L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation +4 more
		FAM118A	Unknown	33632709	GWAS catalog	—
		GREM1	Unknown	18372905 21761138 23266556 23300701 24737748 25990418 26151821 29917119 30104761 30510241 30529582 31089142 31826910 32887889 34594039 36539618 37340002 38408508 38538606 38872215 39024449	GWAS catalog	TGF-beta signaling pathway
		GRIK2	Unknown	36077729 38411962	GWAS catalog	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
		POU5F1B	Unknown	17618283 17618284 18372901 18372905 21242260 23266556 24737748 24836286 25990418 26151821 26965516 28960316 29471430 29917119 30104761 30510241 30529582 31089142 31826910 32514122 32887889 34290314 34594039 34671089 34981446 35512	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		PREX1	Unknown	26151821 29917119 30510241 30529582 31089142 31826910 32887889 34594039 36539618 37340002 38408508 38538606 38872215	GWAS catalog	Chemokine signaling pathway Kaposi sarcoma-associated herpesvirus infection NRAGE signals death through JNK +2 more
		RHPN2	Unknown	19011631 24737748 24836286 26965516 29917119 30510241 30529582 31089142 31826910 34594039 36539618 38538606 38872215	GWAS catalog	RHO GTPases Activate Rhotekin and Rhophilins
		SMAD7	Unknown	17934461 18372901 18372905 21761138 23266556 24448986 24836286 25990418 26151821 26965516 27207650 29228715 29471430 29917119 30104761 30510241 30529582 31089142 31826910 32514122 32887889 34290314 34594039 34671089 35512400 36539	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
		SYMPK	Unknown	28295283	GWAS catalog	mRNA surveillance pathway Tight junction Transport of Mature mRNA Derived from an Intronless Transcript +4 more
		TWF2	Unknown	33632709	GWAS catalog	—
		UTP23	Unknown	25990418 30510241 34594039 34671089 36539618 37340002	GWAS catalog	—
		ZCWPW2	Unknown	32887889 38538606	GWAS catalog	—
COLORECTAL CARCINOMA	EFO_1001951	EIF3H	Unknown	37965154	GWAS catalog	Measles L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation +4 more
		GREM1	Unknown	37965154	GWAS catalog	TGF-beta signaling pathway
		POU5F1B	Unknown	37965154 39024449	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		SMAD7	Unknown	37965154	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
FAMILIAL COLORECTAL CANCER TYPE X	440437	BRCA2	Causal	36370464	Orphanet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
FAMILIAL COLORECTAL CANCER TYPE X	440437	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
RECTUM CANCER	EFO_1000657	ABHD12B	Unknown	33632709	GWAS catalog	—
		CNTNAP2	Unknown	36077729	GWAS catalog	Cell adhesion molecules
		EIF3H	Unknown	32887889	GWAS catalog	Measles L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation +4 more
		GREM1	Unknown	32887889	GWAS catalog	TGF-beta signaling pathway
		POU5F1B	Unknown	32887889	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		SMAD7	Unknown	32887889	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more

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Colorectal cancer

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