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: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT 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: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 9361030 1997
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		G 0.800 GeneticVariation CLINVAR