Branchiootorenal syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Branchio-Oto-Renal Syndrome C0265234 SIX5 Causal Pathogenic evidence from ClinVar 10802667, 10802668, 11950062, 14704431, 17357085, 24429398 ClinVar
EYA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10072433, 11734542, 12834866, 14628042, 18220287, 19206155, 19951260 -
SIX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9770533, 12874121, 15141091, 17637804, 18330911, 19389353, 19497856, 21254961, 21700001, 24164807, 29500469 -
TFAP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19685247 -
Branchiootorenal Syndrome 2 C1970479 SIX5 Causal Pathogenic evidence from ClinVar 9949207, 17357085 ClinVar
EYA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12834866 -
SIX1 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 -