Melnick-fraser syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Branchiootorenal Syndrome 1 C4551702 EYA1 Causal Pathogenic evidence from ClinVar 9361030, 9603436, 10464653, 10655545, 10991693, 11558900, 12834866, 15146463, 16441263, 16691597, 18177466, 18220287, 19951260, 21280147, 24489909, 26969326, 27657687, 28832562 ClinVar
SIX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SIX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TFAP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19685247 -