Disease: Branchiootorenal Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909202
rs121909202
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
dbSNP: rs121909202
rs121909202
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs121909202
rs121909202
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 18177466 2008
dbSNP: rs121909202
rs121909202
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 16691597 2006