Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689

2016

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. 24933359

2014

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. 24506266

2014

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae. 22848872

2012

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. 21522185

2011

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family. 17868390

2007

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish. 14736743

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. 14676472

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN DFNA5: hearing impairment exon instead of hearing impairment gene? 15173223

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. 12853124

2003

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. 14559215

2003

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Nonsyndromic hearing impairment is associated with a mutation in DFNA5. 9771715

1998