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
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Mammalian diaphanous-related formin 1 is required for motility and invadopodia formation in human U87 glioblastoma cells. 24317603 2014
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Our findings localize DIAPH1 particularly to myeloid cells in the CNS, especially in AD in the locations of lipid droplet accumulation, thereby implicating RAGE-DIAPH1 signaling in dysregulated lipid metabolism and morphological changes of inflamed myeloid cells in this disorder. 29966194 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.010 GeneticVariation disease BEFREE Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574 2016
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Mammalian diaphanous-related formin 1 is required for motility and invadopodia formation in human U87 glioblastoma cells. 24317603 2014
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 Biomarker disease BEFREE Thus, blockade of DIAPH1-tubulin interaction may be a promising approach to inhibit one of the earliest steps in the metastatic cascade of colon cancer. 26124177 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 Biomarker disease BEFREE This very strong reducing effect of DIAPH1 depletion on colon carcinoma cell metastasis makes the protein a promising therapeutic target for individualized colorectal cancer therapy. 24105619 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE As well as cortactin, DIAPH1 was not detectable in normal colon tissue and expression of both proteins was positively correlated with metastasis of colorectal cancer. 24105619 2014
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 Biomarker disease BEFREE The Formin, DIAPH1, is a Key Modulator of Myocardial Ischemia/Reperfusion Injury. 29239839 2017
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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