Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794 2019
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 Biomarker disease BEFREE Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. 27142990 2016
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease BEFREE A mutation in EYA4 was found in a Dutch family, causing DFNA10. 26331839 2016
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease CLINVAR Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss. 25781927 2015
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease UNIPROT Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss. 25961296 2015
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease UNIPROT A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing. 25809937 2015
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506 2012
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease CLINVAR Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. 17567890 2007
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 Biomarker disease GENOMICS_ENGLAND Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease CLINVAR Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 Biomarker disease GENOMICS_ENGLAND Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease CLINVAR Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. 11159937 2001
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease BEFREE We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3-23.2). 11558763 2001
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 GeneticVariation disease UNIPROT Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. 11159937 2001
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 Biomarker disease GENOMICS_ENGLAND EYA4, a novel vertebrate gene related to Drosophila eyes absent. 9887327 1999
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 CausalMutation disease CLINVAR
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
0.730 Biomarker disease CTD_human
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 GermlineCausalMutation disease ORPHANET Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 Biomarker disease GENOMICS_ENGLAND Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 Biomarker disease GENOMICS_ENGLAND Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 15735644 2005
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 Biomarker disease GENOMICS_ENGLAND EYA4, a novel vertebrate gene related to Drosophila eyes absent. 9887327 1999
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 CausalMutation disease CLINVAR
CUI: C1854368
Disease: Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1J
0.700 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.540 Biomarker disease BEFREE In addition, EYA4 methylation may be identified in stool samples and it serves as a potential stool biomarker for detection of advanced adenoma and CRC. 25620232 2015