×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
GermlineCausalMutation
disease
ORPHANET
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
27808407
2017
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
GeneticVariation
disease
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
0.610
Biomarker
disease
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
0.610
GermlineCausalMutation
disease
ORPHANET
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
27707755
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CLINGEN
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CLINGEN
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
27707755
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
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
0.610
GeneticVariation
disease
UNIPROT
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
GENOMICS_ENGLAND
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
26912466
2016
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
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
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
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CLINGEN
Unique transgenic animal model for hereditary hearing loss.
19102128
2008
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CLINGEN
Mitf regulation of Dia1 controls melanoma proliferation and invasiveness.
17182868
2006
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
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
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CLINGEN
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.
9360932
1997
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
GeneticVariation
disease
UNIPROT
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.
9360932
1997
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
CTD_human
×
Entrez Id:
1729
Gene Symbol:
DIAPH1
DIAPH1
0.610
Biomarker
disease
GENOMICS_ENGLAND