Source: UNIPROT

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 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506

2012
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 GeneticVariation UNIPROT Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 9360932

1997