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 |
|
|
|