| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.470 | GeneticVariation | phenotype | BEFREE | We identified the novel missense mutation c.1855T>G (p.W619G) in EYA4 causing autosomal dominant non-syndromic hearing impairment in the selected Chinese family. | 30942159 | 2019 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. | 26331839 | 2016 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | In conclusion, we identified the pathogenic gene and found that the novel missense mutation c.1643C>G (p.T548R) in EYA4 might have caused autosomal dominant non-syndromic hearing impairment in the selected Chinese family. | 25809937 | 2015 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. | 25681523 | 2015 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | E193, a heterozygous truncating mutation in the human transcription cofactor Eyes absent 4 (Eya4), causes hearing impairment followed by dilative cardiomyopathy. | 26499333 | 2015 | ||||
|
0.470 | GeneticVariation | phenotype | BEFREE | A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. | 12477971 | 2002 | ||||
|
0.470 | Biomarker | phenotype | BEFREE | On the basis of these data, the hearing loss phenotype in this American DFNA10 family can be described as postlingual, initially progressive, and resulting, without the influence of presbycusis, in largely stable, flat sensorineural deafness. | 11558763 | 2001 | ||||
|
0.470 | Biomarker | phenotype | GENOMICS_ENGLAND | EYA4, a novel vertebrate gene related to Drosophila eyes absent. | 9887327 | 1999 | ||||
|
0.470 | Biomarker | phenotype | HPO |