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: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 GeneticVariation phenotype BEFREE Genes causing non-syndromic autosomal-dominant deafness with HI in the low and mid frequencies were previously mapped to chromosome 4p16.3 (DFNA6, DFNA14) and chromosome 5q31 (DFNA1). 11553051 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation disease BEFREE The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood. 27707755 2016
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease BEFREE Only three autosomal dominant hearing loss loci (DFNA1, DFNA6/14/38 and DFNA54) have been reported to be associated with predominantly low-frequency (<2kHz) sensorineural hearing impairment (LFSNHI). 16043233 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation disease BEFREE We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that segregate with a DIAPH1 R1213* variant predicting partial truncation of the DIAPH1 diaphanous autoregulatory domain. 26912466 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 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: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Homozygous truncating DIAPH1 mutations located N-terminally to the DFNA1 mutations have recently been identified in autosomal recessive microcephaly. 27808407 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Here, we show that patients with a homozygous nonsense DIAPH1 alteration (p.Gln778*) have MCP as well as reduced height and weight. diap1 (mDia1 knockout (KO))-deficient mice have grossly normal body and brain size. 24781755 2015
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.120 Biomarker 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
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.120 Biomarker disease BEFREE In addition to Wolfram syndrome gene 1 (DFNA6/14/38) and diaphanous (DFNA1) there is evidence for a third gene involved in low-frequency hearing loss located at DFNA15. 15490091 2004
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. 26463574 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Thus, therapeutic targeting of the RAGE/Dia-1/small GTPases signaling may successfully reduce local invasion and metastasis in TC. 25744544 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 AlteredExpression phenotype BEFREE Most likely the stronger effect of DIAPH1 depletion on colon cancer metastasis is due to the fact that in vitro knock down of DIAPH1 impaired all steps of metastasis; adhesion, invasion and migration while down-regulation of cortactin only reduced adhesion and invasion. 24105619 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Dia1-dependent adhesions are required by epithelial tissues to initiate invasion. 29437785 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Our results reveal that Dia1 is necessary for LPA-stimulated Rho/ROCK signaling and bleb-associated cancer cell invasion. 17575049 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Thus, therapeutic targeting of the RAGE/Dia-1/small GTPases signaling may successfully reduce local invasion and metastasis in TC. 25744544 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Our data confirmed that depletion of DIAPH1 strongly inhibited lung metastasis and revealed that, in contrast to control cells, DIAPH1-depleted cells did not form metastases in further organs. 26124177 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Our results reveal that Dia1 is necessary for LPA-stimulated Rho/ROCK signaling and bleb-associated cancer cell invasion. 17575049 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Relative copy number loss involving the DIA1 gene was correlated to family history of cancer (P<0.001), death (P=0.002), and consumption of alcohol (P=0.026). 12226751 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 Biomarker disease BEFREE Most likely the stronger effect of DIAPH1 depletion on colon cancer metastasis is due to the fact that in vitro knock down of DIAPH1 impaired all steps of metastasis; adhesion, invasion and migration while down-regulation of cortactin only reduced adhesion and invasion. 24105619 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE The mammalian diaphanous-related formin 1 (Diaph1) which belongs to formin-homology protein family, is a target of RhoA and involved in a number of actin-related biological processes, which abnormally expressed in pathological conditions in a number of tumors. 29035824 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE High DIAPH1, EB1, KATNA1 and KIF14 protein levels were associated with increased overall survival (OAS) of ovarian cancer patients, while high DIAPH1 and EB1 protein levels were also associated with low differentiation of respective tumors (G2/3). 30094535 2018
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