Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | disease | 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 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. | 16441263 | 2006 | ||||
|
0.710 | Biomarker | disease | CTD_human | Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. | 12834866 | 2003 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. | 11558900 | 2001 | ||||
|
0.710 | GeneticVariation | disease | 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 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. | 10991693 | 2000 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. | 10464653 | 1999 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. | 9603436 | 1998 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. | 9361030 | 1997 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND |