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