DIAPH1, diaphanous related formin 1, 1729

N. diseases: 71; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 Biomarker disease GENOMICS_ENGLAND Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574 2016
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 Biomarker disease GENOMICS_ENGLAND A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 26912466 2016
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 GermlineCausalMutation disease ORPHANET Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. 24781755 2015
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 GermlineCausalMutation disease ORPHANET Sequence analysis and expression in Escherichia coli of the hyaluronidase gene of Streptococcus pyogenes bacteriophage H4489A. 2643574 1989
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 CausalMutation disease CLINVAR
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 Biomarker disease CTD_human
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 GeneticVariation disease CLINVAR
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