Branchiootorenal syndrome

Disease Term Disease ID Gene Symbol Classification References Source
BRANCHIO-OTO-RENAL SYNDROME
C0265234MESH:D019280MONDO:0007029
CLRN1 Unknown — Disgenet
EYA1 Unknown
10072433 11734542 12834866 14628042 18220287 19206155 19951260
CTD ClinGen Disgenet
PAX1 Unknown — Disgenet
SIX1 Unknown — CTD ClinGen Disgenet GenCC
SIX5 Unknown
20301554
CTD ClinGen Disgenet GWAS catalog
TFAP2A Unknown
19685247
CTD Disgenet
TJP2 Unknown — Disgenet
BRANCHIOOTORENAL SPECTRUM DISORDERS
EYA1 Unknown — ClinVar
SIX1 Unknown — ClinVar
SIX5 Unknown — ClinVar
BRANCHIOOTORENAL SYNDROME 1
113650C4551702MONDO:0007236
EYA1 Causal
10655545 9020840 9361030 19206155 5365063 16441263
CTD ClinVar Disgenet HPO
SIX1 Causal — ClinVar Disgenet HPO
BRANCHIOOTORENAL SYNDROME 2
610896C1970479MONDO:0012575
SIX5 Causal
17357085
ClinVar Disgenet GWAS catalog HPO