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6 Possible Causes for Mutation in the RASGRP2 Gene

  • Bleeding Disorder due to CalDAG-GEFI Deficiency

    […] in the RASGRP2 gene on chromosome 11q13.[malacards.org] Gene Human Gene Mutation Database (HGMD) RASGRP2 SNPedia medical, phenotypic, and genealogical associations of SNPs for RASGRP2 No data available for Polymorphic Variants[genecards.org] (RASGRP2) mutation affects platelet function and causes severe bleeding.[genome.jp]

  • Glanzmann Thrombasthenia

    Human CalDAG- GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med 2014; 211 : 1349-62. 23.[ijmr.org.in]

  • Bleeding Diathesis

    Mutations affecting RASGRP2, the gene encoding the Rap GTPase activator, CalDAG-GEFI, give rise to a novel, and rare, group of platelet signal transduction abnormalities.[ncbi.nlm.nih.gov]

  • Quebec Platelet Disorder

    ), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene[ncbi.nlm.nih.gov] (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888[ncbi.nlm.nih.gov] […] mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene[ncbi.nlm.nih.gov]

  • Bernard-Soulier Syndrome

    ), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene[ncbi.nlm.nih.gov] (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888[ncbi.nlm.nih.gov] […] mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene[ncbi.nlm.nih.gov]

  • Leukocyte Adhesion Deficiency Syndrome

    Because mutations in the CalDAG-GEF-I gene have been previously suspected to be responsible for the LAD-III disorder ( 27 ), we also analyzed the CalDAG-GEF-I ( RASGRP2 )[doi.org]

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