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33 Possible Causes for TP53BP1, gene

  • Multiple Self-Healing Squamous Epithelioma

    Although no mutation has been detected in MSSE families, PTCH has not been excluded as the MSSE gene.[ncbi.nlm.nih.gov] PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1[mendelian.co] […] group A (XPA) and PATCHED (PTCH) as candidate genes.[eurekamag.com]

  • Ataxia Telangiectasia

    The heterogeneity observed in the meta-analysis of individuals with radiation exposure might be due to gene-ethnicity or gene-gene interactions.[ncbi.nlm.nih.gov] 81,679,756 RGD:8661242 G Rnf40 ring finger protein 40 1 199,037,472 199,052,823 RGD:8661225 G Rnf8 ring finger protein 8 20 8,285,380 8,309,858 RGD:8661232 RGD:8661237 G Tp53bp1[rgd.mcw.edu] One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[ncbi.nlm.nih.gov] PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1[mendelian.co] It is caused by heterozygous mutations in GNAS gene.[ncbi.nlm.nih.gov]

  • LIG4 Syndrome

    Click here to return to gene search form[okdb.appliedbioinfo.net] Epub 2009 Sep 2. 2010 13BRCA1, LIG4, TP53BP1 53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks.[genatlas.medecine.univ-paris5.fr] Additional Disease Information for LIG4 Genes that share disorders with LIG4: view No data available for Genatlas for LIG4 Gene DNA repair gene polymorphisms and risk of pancreatic[genecards.org]

  • Simpson Dysmorphia Syndrome

    Occasionally, these deletions also include the glypican-4 gene ( GPC4 ).[ncbi.nlm.nih.gov] PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1[mendelian.co] Two patients showed deletions in the GPC3 gene. Six unrelated patients showed point mutations in various parts of the GPC3 gene. Table 1.[doi.org]

  • Wiedemann-Steiner Syndrome

    Home / Genetic Testing / Test Catalogue / By Medical Specialty / Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene) Back to results Wiedemann-Steiner syndrome (sequence[cgcgenetics.com] PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1[mendelian.co] In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed.[preventiongenetics.com]

  • Chronic Eosinophilic Leukemia

    Potentially, other PDGFR fusion genes with the 18-bp bacterial gene segment could arise. Indeed, lateral gene transfer from Marinobacter sp.[biomarkerres.biomedcentral.com] Other similar patients have had fusion genes that involved HIP1, H4, CEV14, RAB5 (all summarized by Steer et al. ), 13 PDE4DIP, 14 NIN, 15 TP53BP1, 16 HCMOGT1, 17 WDR48, 18[academic.oup.com] The 5'KIAA1509/3'PDGFRB fusion gene is predicted to encode a protein of 2059 amino acids.[ncbi.nlm.nih.gov]

  • Ataxia-Telangiectasia-Like Disorder Type 1

    BARD1 : The BARD1 gene works with the BRCA1 gene to repair DNA damage. A mutation in the BARD1 gene increases a woman’s risk of breast cancer.[breastcancer.org] 81,679,756 RGD:8661242 G Rnf40 ring finger protein 40 1 199,037,472 199,052,823 RGD:8661225 G Rnf8 ring finger protein 8 20 8,285,380 8,309,858 RGD:8661232 RGD:8661237 G Tp53bp1[rgd.mcw.edu] Gene Found for Fatal Childhood Disease, Ataxia-Telangiectasia June 1995 Scientists have isolated the gene and identified mutations that cause the childhood disease ataxia-telangiectasia[genome.gov]

  • Pseudopseudohypoparathyroidism

    Abstract We determined the chromosomal location of the mouse gene Stk25, encoding a member of the Ste20/PAK family of serine/threonine kinases, by interspecific backcross[ncbi.nlm.nih.gov] PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1[mendelian.co] Hayward B et al (2001) Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.[doi.org]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    Causes Are there any other gene mutations that cause Crouzon syndrome? Only FGFR2 gene mutations are known to be associated with Crouzon syndrome.[thinkgenetic.com] WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1[mendelian.co] Conclusions: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them.[dialnet.unirioja.es]

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