Constitutional mismatch repair deficiency syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Constitutional mismatch repair deficiency syndrome 252202 MLH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MSH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MSH6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PMS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Constitutional Mismatch Repair Deficiency Syndrome C4321324 MLH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9500552, 9927033, 9927034, 10763829, 11389087, 11809679, 14762794, 15139004, 15340263, 17440981, 18593904, 22692065 -
MSH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7550317, 9927034, 10763829, 11809679, 12549480, 15340263, 16372347, 17601929, 18593904, 19101824 -
MSH6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9390556, 9927034, 10763829, 11809679, 15340263, 16000562, 16283678, 17259933, 17557300, 18030674, 18409202, 18593904 -
PMS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9500552, 9927034, 10763829, 11809679, 14574005, 15077197, 15340263, 16204034, 17557300, 18030674, 28297620 -