Lynch syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Lynch syndrome 144 MLH1 Causal Pathogenic evidence from ClinVar - ClinVar
MSH2 Causal Pathogenic evidence from ClinVar - ClinVar
MSH6 Causal Pathogenic evidence from ClinVar - ClinVar
PMS2 Causal Pathogenic evidence from ClinVar - ClinVar
EPCAM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MLH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PMS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TGFBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Lynch Syndrome C4552100 MLH1 Causal Pathogenic evidence from ClinVar 14756672, 20020535, 21064154, 22102614, 23788249, 25701956 ClinVar
MSH2 Causal Pathogenic evidence from ClinVar 8261515, 8706033, 12702580, 14756672, 17101317, 22102614, 23255516, 23788249, 25701956, 27329137 ClinVar
MSH6 Causal Pathogenic evidence from ClinVar 7604264, 7604265, 9354786, 9390556, 10521294, 10545954, 11245474, 11586295, 11709755, 18417481, 18790734, 22102614, 23788249, 25701956 ClinVar
PMS2 Causal Pathogenic evidence from ClinVar 8072530, 11793442, 14756672, 15872200, 15887124, 16619239, 16873062, 18602922, 20624957, 22494821, 23788249, 25512458, 25701956 ClinVar
APC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7661930 -
CD44 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28255344 -
EPCAM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25701956 -
MLH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12702580 -
TGFBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9590282 -