Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 GeneticVariation CLINVAR Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. 25420488

2015
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 SusceptibilityMutation CLINVAR

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 CausalMutation CLINVAR

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 CausalMutation CLINVAR

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 CausalMutation CLINVAR

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.470 GeneticVariation CLINVAR

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.470 CausalMutation CLINVAR

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 GeneticVariation CLINVAR

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 GeneticVariation CLINVAR

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.140 CausalMutation CLINVAR

Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.120 CausalMutation CLINVAR

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.120 CausalMutation CLINVAR

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.120 CausalMutation CLINVAR

Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549

2012