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11 Possible Causes for SIGLEC9, gene

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  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] Sphingosine-1-phosphate lyase 1 SGPL1 Sialic acid binding Ig - like lectin 10 SIGLEC10 – * – Sialic acid binding Ig-like lectin 7 SIGLEC7 ** Sialic acid binding Ig-like lectin 9 SIGLEC9[retrovirology.biomedcentral.com] T)AGAAG nc-transcript-variant, reference, stop-gained rs886041052 Pathogenic 183,675,163( ) TTTTA(G/T)CTTTT splice-acceptor-variant Relevant External Links for TRAPPC11 Gene[genecards.org]

  • Activated PI3K-Delta Syndrome

    Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: PIK3CD ( 1 gene ) Coverage[fulgentgenetics.com] CD327 SIGLEC6, (Sialic acid-binding Ig-like lectin 6) CD328 SIGLEC7, (Sialic acid-binding Ig-like lectin 7) CD329 SIGLEC9, (Sialic acid-binding Ig-like lectin 9) CD330 not[dokterdoc.com] Mutations in this gene have been reported to cause T-cell defects, thus the implication of immune deficiency phenotype in affected individuals.[cincinnatichildrens.org]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.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

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.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

    The gene symbol is from the HUGO Gene Nomenclature Committee (HGNC) database.[dna.universeofatoms.com] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes.[genepeeks.com] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Premature Chromatid Separation Trait

    811 The long hunt for the Huntingtons chorea gene 240 positional cloning of an imprinted gene?[books.google.com] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.org] An important gene associated with Premature Chromatid Separation Trait is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B).[malacards.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    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] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.org] gene; Usher syndrome type IIIA and retinitis pigmentosa-61 caused by mutations in the CLRN1 gene).[julesberman.blogspot.com]

  • AICA-Ribosiduria

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] SIGLEC9 G:605640 . . SIGMAR1 G:601978 . Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) SIK1 G:605705 . . SIK2 G:608973 . . SIKE1 G:611656 . .[usegalaxy.org] The outlier genes identified in the two HPRT deficient patients were different and none of these genes to our knowledge are disease associated.[ojrd.biomedcentral.com]

  • Ring Chromosome 19

    […] and gene function.[journals.plos.org] […] antigen) [AIRM1] SIGLEC8 19q13.33-q13.41 Q9NYZ4 SIGL8_HUMAN 605639 Sialic acid-binding Ig-like lectin 8 precursor (Siglec-8) (Sialoadhesin family member 2) (SAF-2) [SAF2] SIGLEC9[uniprot.org] These chromosomal regions contain several candidate genes of clinical significance, including SHH, EN2, and FAM20C.[ncbi.nlm.nih.gov]

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