Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GermlineCausalMutation disease ORPHANET Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 27808407 2017
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GeneticVariation disease UNIPROT Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 27808407 2017
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 27808407 2017
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GermlineCausalMutation disease ORPHANET A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease GENOMICS_ENGLAND Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 27707755 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. 27707755 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GeneticVariation disease UNIPROT A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease GENOMICS_ENGLAND A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN cAMP-stimulated phosphorylation of diaphanous 1 regulates protein stability and interaction with binding partners in adrenocortical cells. 23325789 2013
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GeneticVariation disease UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506 2012
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN Unique transgenic animal model for hereditary hearing loss. 19102128 2008
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. 17182868 2006
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GeneticVariation disease BEFREE Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A). 12324385 2002
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CLINGEN Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 9360932 1997
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 GeneticVariation disease UNIPROT Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. 9360932 1997
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease CTD_human
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
0.610 Biomarker disease GENOMICS_ENGLAND