Create issue ticket

12 Possible Causes for SMYD5, gene

Show results in: Italiano

  • Brachydactyly

    […] tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Smyd5 tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Smyd5 tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Otud7b tm1b[mousephenotype.org] On the basis of the clinical phenotype identification, we screened IHH and ROR2 by the candidate gene approach using PCR direct sequencing.[ncbi.nlm.nih.gov] One gene -- two different syndromes But how can one mutated gene cause two quite different diseases such as hypertension and brachydactyly?[sciencedaily.com]

  • Brachydactyly of Fingers

    […] tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Smyd5 tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Smyd5 tm1e(EUCOMM)Wtsi brachydactyly, HOM, Female, WTSI Otud7b tm1b[mousephenotype.org] One gene -- two different syndromes But how can one mutated gene cause two quite different diseases such as hypertension and brachydactyly?[sciencedaily.com] gene,” Dr.[mdc-berlin.de]

  • Amegakaryocytic Thrombocytopenia

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with[ncbi.nlm.nih.gov] The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor. Here, we describe a Korean male with CAMT.[ncbi.nlm.nih.gov]

  • Familial Congenital Mirror Movements 2

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] Gene view The gene view histogram is a graphical view of mutations across RAD51.[cancer.sanger.ac.uk] RAD51 recombinase The RAD51 gene provides instructions for making a protein that is essential for repairing damaged DNA.[ghr.nlm.nih.gov]

  • Multicentric Carpo-Tarsal Osteolysis with or without Nephropathy

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] Recently, heterozygous missense mutations in the V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB) gene have been causally related to MCTO patients in[spandidos-publications.com]

  • Multiple Self-Healing Squamous Epithelioma

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] Although no mutation has been detected in MSSE families, PTCH has not been excluded as the MSSE gene.[ncbi.nlm.nih.gov] Squamous cell carcinomata also develop as one of the complications of xeroderma pigmentosum , and one of the xeroderma pigmentosum genes (XPA) maps within the MSSE interval[curehunter.com]

  • Primary Congenital Glaucoma 3A

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] Our results support previous studies reporting that the CYP1B1 gene is a major gene for primary congenital glaucoma (GLC3A).[jmg.bmj.com] Order single gene CYP1B1 Order this gene as a single gene test.[invitae.com]

  • Pseudopseudohypoparathyroidism

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] 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] The remaining two PHP-Ib showed a loss of methylation of exon 1A on the maternal allele as a consequence of heterozygous 3-kb microdeletions within the STX16 gene.[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[ncbi.nlm.nih.gov] It is caused by heterozygous mutations in GNAS gene.[ncbi.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism Type 20 with or without Anosmia

    , TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5[mendelian.co] 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 distinct genetic loci, including the gene represented in this entry.[genecards.org]

Further symptoms