MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid 		0.010 GeneticVariation disease BEFREE Our study revealed a higher percentage of epiretinal membranes and cystoid macular edema in patients with MYO7A mutations compared with rod-cone dystrophy patients with other mutations. 31479088 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE After GWA filtration, two mRNAs (Myo7a and Zfp874a) and two lncRNAs (n290048 and n271850) were highlighted as the candidates responsible for genetic susceptibility to lung cancer. 30719228 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		0.010 GeneticVariation disease BEFREE Our study revealed a higher percentage of epiretinal membranes and cystoid macular edema in patients with MYO7A mutations compared with rod-cone dystrophy patients with other mutations. 31479088 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE After GWA filtration, two mRNAs (Myo7a and Zfp874a) and two lncRNAs (n290048 and n271850) were highlighted as the candidates responsible for genetic susceptibility to lung cancer. 30719228 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE After GWA filtration, two mRNAs (Myo7a and Zfp874a) and two lncRNAs (n290048 and n271850) were highlighted as the candidates responsible for genetic susceptibility to lung cancer. 30719228 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Furthermore, Myo7a depletion suppressed melanoma cell metastases to the lung, kidney and bone in mice. 29361540 2018
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE In contrast, overexpression of Myo7a promoted melanoma xenograft growth and lung metastasis. 29361540 2018
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.010 GeneticVariation phenotype BEFREE A girl with profound congenital deafness and balance problems was found at 3.5 years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. 29551606 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE We found that silencing <i>Myo7a</i> by means of RNAi inhibited melanoma cell growth through upregulation of cell cycle regulator p21 (also known as CDKN1A) and suppressed melanoma cell migration and invasion through downregulation of RhoGDI2 (also known as ARHGDIB) and MMP9. 29361540 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE Furthermore, Myo7a depletion suppressed melanoma cell metastases to the lung, kidney and bone in mice. 29361540 2018
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		0.010 GeneticVariation disease BEFREE Longitudinal analysis showed that visual acuity and visual field decreased more rapidly in subjects carrying MYO7A mutations than in those carrying USH2A mutations (mean annual exponential rates of decline of 3.92 vs. 3.44% and of 8.52 vs. 4.97%, respectively), and the former patients reached legal blindness on average 15 years earlier than the latter. 27828912 2017
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2. 28346292 2017
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. 26968074 2016
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.010 GeneticVariation disease BEFREE We also show that subretinal delivery in pigs of dual AAV trans-splicing and hybrid vectors successfully reconstitute, albeit at variable levels, the expression of the large genes ABCA4 and MYO7A mutated in STGD and USH1B, respectively. 24572793 2014
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.010 AlteredExpression disease BEFREE Myo7a and Kcnj10 expression analysis show a lack of the melanocyte-like intermediate cells in hb/hb stria vascularis, which can explain the absence of endocochlear potential. 23457544 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 AlteredExpression disease BEFREE Q-PCR analyses showed J cybrids had decreased expressions for CFH, C3, and EFEMP1 genes, high risk genes for AMD, and higher expression for MYO7A, a gene associated with retinal degeneration in Usher type IB syndrome. 23365660 2013
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		0.010 GeneticVariation phenotype BEFREE This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. 23237960 2013
CUI: C0206586
Disease: Endolymphatic Hydrops
Endolymphatic Hydrops 		0.010 GeneticVariation disease BEFREE We speculate that the low-frequency sensorineural hearing loss in this DFNA11 family was not associated with endolymphatic hydrops. 21150918 2011
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		0.010 GeneticVariation disease BEFREE Mutations within MYO7A can lead to recessive and dominant forms of inherited hearing loss. 21378158 2011
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		0.010 GeneticVariation group BEFREE Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B. 21493626 2011
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 Biomarker disease BEFREE Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA. 21901789 2011
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE We investigated the molecular determinant of a mild form of retinopathy in association with a subtle splicing modulation of MYO7A mRNA. 21031134 2010
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.010 GeneticVariation group BEFREE The exact mechanism through which myoVIIA mutations result in these inner-ear anomalies is unknown. 15886106 2005
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.010 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: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		0.010 Biomarker disease BEFREE Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy. 12324385 2002