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183 Possible Causes for MYO1A, gene

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  • Mitochondrial Non-Syndromic Sensorineural Deafness

    FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A[bredagenetics.com] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed. b' ' Genetests: Related Diseases: References: 1.[moldiag.com]

  • Deafness, Autosomal Dominant 23

    FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A[bredagenetics.com] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] These children have one working copy of the gene and one copy of the gene that does not work correctly.[genesinlife.org]

  • Familial Thoracic Aortic Aneurysm 1

    […] muscle cell function, including candidate integrins ( ITGA5, ITGA7, ITGB7 ), actin-binding proteins ( TWF1, AVIL, LIMA1 ), and myofibril-related proteins ( MYL6, MYL6B, MYO1A[circgenetics.ahajournals.org] SOP4 Strong 12/18/2016 MYLK2 hypertrophic cardiomyopathy MONDO:0005045 SOP4 Limited 04/18/2017 MYO15A nonsyndromic genetic deafness MONDO:0019497 SOP5 Definitive 08/30/2018 MYO1A[clinicalgenome.org] CASE REPORTS Familial Thoracic Aortic Aneurysm and Dissection Associated with Marfan-related Gene Mutations: Case Report of a Family with Two Gene Mutations Tohru Yamawaki[jstage.jst.go.jp]

  • Atrichia with Papular Lesions

    […] autosomal dominant 3B; 612643; GJB6 Deafness, autosomal dominant 4; 600652; MYH14 Deafness, autosomal dominant 44; 607453; CCDC50 Deafness, autosomal dominant 48; 607841; MYO1A[howlingpixel.com] To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene.[ncbi.nlm.nih.gov] On the basis of a linkage analysis of this kindred using six microsatellite markers spanning the human hairless gene region, we found that the APL locus maps to chromosome[ncbi.nlm.nih.gov]

  • Autosomal Dominant Deafness 28

    Third, a nonsense mutation was found in exon 4 of MYO1A in the proband of Newfoundland Family 2102.[research.library.mun.ca] الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] […] peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli) CLPP 601119 2084 clarin 1 USH3A gene[ukgtn.nhs.uk]

  • Usher Syndrome Type 2

    SOP4 Strong 12/18/2016 MYLK2 hypertrophic cardiomyopathy MONDO:0005045 SOP4 Limited 04/18/2017 MYO15A nonsyndromic genetic deafness MONDO:0019497 SOP5 Definitive 08/30/2018 MYO1A[clinicalgenome.org] […] usherin The USH2A gene provides instructions for making a protein called usherin.[ghr.nlm.nih.gov] HGMD Public site users Gene symbol Chromosomal location Gene name Mutation total Log in USH2A 1q41 Usher syndrome 2A (autosomal recessive, mild) 730 If you are already a registered[hgmd.cf.ac.uk]

  • Usher Syndrome, Type 3

    SOP4 Strong 12/18/2016 MYLK2 hypertrophic cardiomyopathy MONDO:0005045 SOP4 Limited 04/18/2017 MYO15A nonsyndromic genetic deafness MONDO:0019497 SOP5 Definitive 08/30/2018 MYO1A[clinicalgenome.org] The amino acid activation, aminoacylation, and tRNA binding functions were all consistent between the mutation and wild-type genes.[hearinghealthfoundation.org] Usher syndrome is caused by mutations in specific genes.[rarediseases.org]

  • Autosomal Recessive Non-Syndromic Intellectual Disability

    SOP4 Strong 12/18/2016 MYLK2 hypertrophic cardiomyopathy MONDO:0005045 SOP4 Limited 04/18/2017 MYO15A nonsyndromic genetic deafness MONDO:0019497 SOP5 Definitive 08/30/2018 MYO1A[clinicalgenome.org] Also one gene for microcephaly ( MCPH1 ) and one gene for NS-ID, namely TUSC3 , have been identified on 8p.[bmcmedgenet.biomedcentral.com] Gene-based tests indicated that genes implicated in NS-ARID were not significantly enriched for quantitative trait loci (QTL) associated with intelligence.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Stickler Syndrome

    FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A[bredagenetics.com] […] associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes.[ncbi.nlm.nih.gov] Together the data from the present study and the previous studies suggest that loss-of-function mutations in any of the collagen IX genes can cause autosomal recessive Stickler[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    MTMR14 MTMR2 MTO1 MTPAP MTR MTRR MTTP MUC1 MUC5B MUSK MUT MUTYH MVK MYB MYBPC1 MYBPC3 MYC MYCN MYD88 MYF6 MYH11 MYH14 MYH2 MYH3 MYH6 MYH7 MYH7B MYH8 MYH9 MYL2 MYLK MYO15A MYO1A[csbg.cnb.csic.es] Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database ().[ncbi.nlm.nih.gov] CLN12 is caused by pathogenic variants in the ATP13A2 gene.[preventiongenetics.com]

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