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50 Possible Causes for RASGRP2, human, protein

Did you mean: RASGRP2, human, proteus

  • LIG4 Syndrome

    EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2[mendelian.co] PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID LIG4 lig4 LIG4 syndrome 606593 ZEBRAFISH MODELS No data available PHENOTYPE No data available[zfin.org] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org]

  • Bleeding Disorder due to CalDAG-GEFI Deficiency

    Note: The corresponding protein is not undetectable.[uniprot.org] Relevant External Links for RASGRP2 Genetic Association Database (GAD) RASGRP2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RASGRP2 No data available for[genecards.org] Category Hematologic disease Brite Human diseases [BR: br08402 ] Cardiovascular diseases Hematologic diseases H01235 Bleeding disorder platelet-type Human diseases in ICD-[genome.jp]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2[mendelian.co] M137 thus may uncouple sodium-phosphate cotransport, suggesting that this amino acid residue has an important functional role in human NaPi-IIc.[ncbi.nlm.nih.gov] Pages: 1 NPT2C Polyclonal Antibody Gene Names: NPT2C ; SLC34A3; HHRH; NPTIIc Other Names: Sodium-dependent phosphate transport protein 2C; Sodium-phosphate transport protein[mybiosource.com]

  • Hereditary Factor X Deficiency

    ., 2017, Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding, BLOOD, Vol: 130, Pages: 1026-1030, ISSN: 0006-4971 Author Web Link[imperial.ac.uk] COAGADEX is made from human plasma and may contain infectious agents, e.g. viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent and, theoretically, the Creutzfeldt-Jakob[coagadex.com] Coagulation Factor X (Human), is a plasma-derived human blood coagulation factor is used by adults and children (aged 12 years and above) with hereditary Factor X deficiency[drugbank.ca]

  • Quebec Platelet Disorder

    […] caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2[ncbi.nlm.nih.gov] We investigated if Chronolume potentiates human platelet aggregation responses after observing discrepancies suspicious of potentiation.[ncbi.nlm.nih.gov] , indicating restriction in the proteins proteolyzed.[ncbi.nlm.nih.gov]

  • Gnathodiaphyseal Dysplasia

    […] showed no significant similarity to any other known protein or protein classes.[ncbi.nlm.nih.gov] EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2[mendelian.co] Abstract Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM:[ncbi.nlm.nih.gov]

  • Bernard-Soulier Syndrome

    Although the presence of a truncated GPIbalpha protein has been often documented, complete absence of the protein has been scarcely reported in Bernard-Soulier syndrome patients[ncbi.nlm.nih.gov] […] caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2[ncbi.nlm.nih.gov] Disease ( DOID:0111059 ) OTHER Bernard-Soulier syndrome type A2 PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID GP1BA gp1ba Bernard-Soulier[zfin.org]

  • Bleeding Diathesis

    […] the authors present a highly unusual patient with significant bone bleeding and circulatory collapse in a metopic craniosynostosis patient with guanine nucleotide-binding protein[ncbi.nlm.nih.gov] KEYWORDS: Bleeding; RASGRP2; dysfunction; platelets; signaling[ncbi.nlm.nih.gov] RESULTS: Following repeated human FVIII injection, FVIII-deficient mice developed anti-human FVIII antibodies that cross-reacted with mouse FVIII.[ncbi.nlm.nih.gov]

  • Syndromic Multisystem Autoimmune Disease due to ITCH Deficiency

    (Mouse Homolog) E3 Ubiquitin Protein Ligase 2 Itchy E3 Ubiquitin Protein Ligase Homolog (Mouse) 2 E3 Ubiquitin-Protein Ligase Itchy Homolog 3 Itchy E3 Ubiquitin Protein Ligase[genecards.org] […] syndrome, type II, complementation group E, 209920 TAZ Barth syndrome, 302060 IL12B BCG and salmonella infection, disseminated, 209950 KRAS Bladder cancer, somatic, 109800 RASGRP2[gsdseq.ir] Human ITCH E3 Ubiquitin Ligase Deficiency In a Non-Amish Girl Lina Ghaloul-Gonzalez1, Marianne McGuire2, Henry Joel Mroczkowski 3, Tiffany Hughly1, Jerry Vockley1,4 1Department[epostersonline.com]

  • Simpson Dysmorphia Syndrome

    Human CellExp Glypican 3 / GPC3 Protein, Cynomolgus recombinant Add to Cart Synonyms GPC3, OCI5, Glypican-3, GTR2-2, MXR7, DGSX, SDYS, SGB, SGBS, SGBS1 Cat# P1119-50-BV Supplier[biocat.com] EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2[mendelian.co] Recombinant human insulin and human growth hormone were kindly provided by Novo Nordisk (Gentofte, Denmark), and recombinant human IGF-I by Eli Lilly (Bad Homburg, Germany[doi.org]