Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 27808407

2017
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 27707755

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN cAMP-stimulated phosphorylation of diaphanous 1 regulates protein stability and interaction with binding partners in adrenocortical cells. 23325789

2013
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN Unique transgenic animal model for hereditary hearing loss. 19102128

2008
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. 17182868

2006
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker CLINGEN Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 9360932

1997
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: 4641
Gene Symbol: MYO1C
MYO1C
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.300 Biomarker CLINGEN Myo1c mutations associated with hearing loss cause defects in the interaction with nucleotide and actin. 20640478

2011
Entrez Id: 4641
Gene Symbol: MYO1C
MYO1C
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.300 Biomarker CLINGEN Are MYO1C and MYO1F associated with hearing loss? 19027848

2009
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: 4641
Gene Symbol: MYO1C
MYO1C
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.300 Biomarker CLINGEN Myosin-I isozymes in neonatal rodent auditory and vestibular epithelia. 12486594

2002
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