Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.300 Biomarker CLINGEN DFNA5: hearing impairment exon instead of hearing impairment gene? 15173223

2004
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.300 Biomarker CLINGEN Nonsyndromic hearing impairment is associated with a mutation in DFNA5. 9771715

1998