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24 Possible Causes for SMC6, gene

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  • Generalized Lipodystrophy

    This is the first report on gene and phenotype analysis of CGL in Japanese.[ncbi.nlm.nih.gov] SFTPB , SFXN5 , SGOL2 , SGPP2 , SH3RF3 , SH3YL1 , SIX3 , SLC11A1 , SLC1A4 , SLC20A1 , SLC25A12 , SLC30A6 , SLC3A1 , SLC4A10 , SLC4A1AP , SLC4A3 , SLC4A5 , SLC5A6 , SLC9A4 , SMC6[mendelmd.org] Several genes (BSCL1-4) were found to be associated to the syndrome but not all CGL patients carry mutations in these genes.[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    Occasionally, these deletions also include the glypican-4 gene ( GPC4 ).[ncbi.nlm.nih.gov] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[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] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed.[preventiongenetics.com]

  • Carney Complex Type 1

    Genes 69 genes co-occuring with the disease carney complex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset[amp.pharm.mssm.edu] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] Balanced translocations or inversions within a targeted gene, or large unbalanced translocations or inversions that extend beyond the genomic location of a targeted gene are[preventiongenetics.com]

  • Pseudohypoparathyroidism

    CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[ncbi.nlm.nih.gov] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] It is caused by heterozygous mutations in GNAS gene.[ncbi.nlm.nih.gov]

  • 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] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] […] group A (XPA) and PATCHED (PTCH) as candidate genes.[eurekamag.com]

  • Xeroderma Pigmentosum Complementation Group C

    Previous GeneCards Identifiers for XPC Gene GC03M014115 GC03M014161 GC03M014165 The protein encoded by this gene is a key component of the XPC complex, which plays an important[genecards.org] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] Similar results were obtained for the DHFR gene.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group F

    Previous HGNC Symbols for ERCC4 Gene Previous GeneCards Identifiers for ERCC4 Gene GC16P013959 GC16P014166 GC16P013980 GC16P013922 The protein encoded by this gene forms[genecards.org] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] , and rs2276466) in glioma, and the roles of gene-gene interactions in the risk of developing this type of cancer.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group B

    Previous GeneCards Identifiers for XPC Gene GC03M014115 GC03M014161 GC03M014165 The protein encoded by this gene is a key component of the XPC complex, which plays an important[genecards.org] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] Northern blot analysis showed that the gene is continuously expressed in all stages of fly development.[ncbi.nlm.nih.gov]

  • Uveal Melanoma

    In addition, the identified regions with lower expressed genes on 3p could harbor genes that are responsible for the poor prognosis of patients with UM.[ncbi.nlm.nih.gov] STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6[mendelian.co] Gene expression analysis for previously treated uveal melanoma has not yet been reported.[ncbi.nlm.nih.gov]

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