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12 Possible Causes for NOC2L, gene

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  • Setleis Syndrome

    […] containing 3 1.62018 MRPS18B mitochondrial ribosomal protein S18B 1.619 FZD6 frizzled class receptor 6 1.61165 CDK5RAP2 CDK5 regulatory subunit associated protein 2 1.61003 NOC2L[amp.pharm.mssm.edu] The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71).[ncbi.nlm.nih.gov] There was a brief report in the ASHG meeting last October that proposed that the Setleis gene was located at chromosome 1, 1p36.[grantome.com]

  • Dentatorubral-Pallidoluysian Atrophy

    Q9ULD9 ATN1 ZNF608 0.456 P54259 Q9ULU4 ATN1 ZMYND8 0.147 P54259 Q9UQB3 ATN1 CTNND2 0.221 P54259 Q9UQB8 ATN1 BAIAP2 0.234 P54259 Q9Y219 ATN1 JAG2 0.147 P54259 Q9Y3T9 ATN1 NOC2L[159.226.67.237] Recently, part of the gene responsible for this disorder was cloned containing a CAG repeat, and predominant neuronal expression of the gene was proved only through Northern[ncbi.nlm.nih.gov] […] allele and a normal allele in this gene.[ncbi.nlm.nih.gov]

  • Congenital Generalized Lipodystrophy Type 4

    […] non-histone chromosome protein 2-like 1 (S. cerevisiae) NIPSNAP1 nipsnap homolog 1 (C. elegans) NKX2-1 NK2 homeobox 1 NLRX1 NLR family member X1 NOA1 nitric oxide associated 1 NOC2L[amp.pharm.mssm.edu] Gene view The gene view histogram is a graphical view of mutations across PTRF.[cancer.sanger.ac.uk] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Autosomal Recessive Ataxia Type Beauce

    NME1 NME/NM23 nucleoside diphosphate kinase 1 NME2 NME/NM23 nucleoside diphosphate kinase 2 NME4 NME/NM23 nucleoside diphosphate kinase 4 NOA1 nitric oxide associated 1 NOC2L[amp.pharm.mssm.edu] A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein.[semanticscholar.org] It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia.[plu.mx]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] A-B: Genetic Testing by Individual Gene Gene Protein Associated Disease(s) AARS2 Alanyl-tRNA Synthetase 2, Mitochondrial Familial Hypertrophic Cardiomyopathy (HCM) ABCA1 ATP-Binding[bcm.edu]

  • Nestor-Guillermo Progeria Syndrome

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A 2012;158A(11):2881-7.[scholar.um5.ac.ma]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] The gene symbol is from the HUGO Gene Nomenclature Committee (HGNC) database.[dna.universeofatoms.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes.[genepeeks.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Premature Chromatid Separation Trait

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] 811 The long hunt for the Huntingtons chorea gene 240 positional cloning of an imprinted gene?[books.google.com] An important gene associated with Premature Chromatid Separation Trait is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B).[malacards.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Premature ovarian failure 5, 611548 (3) NOC2L G:610770 . . NOC3L G:610769 . . NOC4L G:612819 . . NOD1 G:605980 . . NOD2 G:605956 .[usegalaxy.org] Human Gene Mutation Database (HGMD) RMRP SNPedia medical, phenotypic, and genealogical associations of SNPs for RMRP SNP Genotyping and Copy Number Assay Products No data[genecards.org] gene; Usher syndrome type IIIA and retinitis pigmentosa-61 caused by mutations in the CLRN1 gene).[julesberman.blogspot.com]

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