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Entry Name Description Category Pathway Gene
H00453 Branchio-oto-renal syndrome
BOR syndrome
... branchial defects, and facial abnormalities. Indivisuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases. Congenital malformation (BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
(BOR2) SIX5 [HSA:147912] [KO:K19474]
(BO3) SIX1 [HSA:6495] [KO:K15614]
H02046 OFC syndrome
Oto-facio-cervical syndrome
... intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene Congenital malformation (OFC1) EYA1 [HSA:2138] [KO:K15616]
(OFC2) PAX1 [HSA:5075] [KO:K09382]
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