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: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		0.100 Biomarker disease HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		0.100 Biomarker phenotype HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.100 Biomarker group HPO
CUI: C4024656
Disease: Absent vestibular function
Absent vestibular function 		0.100 Biomarker phenotype HPO
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: 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: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
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
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.020 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
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		0.020 GeneticVariation disease BEFREE A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. 28731162 2017
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 GeneticVariation disease BEFREE Since mutations in unconventional myosins are known to cause several human diseases, and since mutations of unconventional myosin VIIa cause retinal degeneration, we evaluated myosin IXA as a candidate for BBS. 10409426 1999
CUI: C0456909
Disease: Blindness
Blindness 		0.060 Biomarker phenotype BEFREE Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]). 21031134 2010
CUI: C0456909
Disease: Blindness
Blindness 		0.060 GeneticVariation phenotype BEFREE Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. 31035849 2019
CUI: C0456909
Disease: Blindness
Blindness 		0.060 GeneticVariation phenotype BEFREE Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). 18181211 2008
CUI: C0456909
Disease: Blindness
Blindness 		0.060 GeneticVariation phenotype BEFREE Mutations in MYO7A (myosin VIIa) cause Usher syndrome type 1B, a disorder involving profound congenital deafness and progressive blindness. 21936790 2011
CUI: C0456909
Disease: Blindness
Blindness 		0.060 GeneticVariation phenotype BEFREE Mutations affecting myosin-VIIa are known to cause deafness and blindness in human Usher syndrome. 10574757 1999
CUI: C0456909
Disease: Blindness
Blindness 		0.060 GeneticVariation phenotype BEFREE Loss of functional myosin VIIa in the retinal pigment epithelia (RPE) and/or photoreceptors leads to blindness. 24705452 2014
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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 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: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO