GP1BA wt Allele

Preferred Label : GP1BA wt Allele;

NCIt synonyms : Glycoprotein Ib Platelet Alpha Subunit wt Allele; CD42b-alpha; Glycoprotein Ib, Platelet, Alpha Polypeptide Gene; GPIbalpha; CD42B; Glycoprotein Ib (Platelet), Alpha Polypeptide Gene; VWDP; GP Ib, Alpha Subunit Gene; DBPLT3; GP1B; BDPLT1; BDPLT3; GPIbA; Platelet Glycoprotein Ib, Alpha Polypeptide Gene; BSS;

NCIt definition : Human GP1BA wild-type allele is located in the vicinity of 17p13.2 and is approximately 3 kb in length. This allele, which encodes platelet glycoprotein Ib alpha chain protein, is involved in the regulation of blood coagulation. Mutation of the gene is associated with Bernard-Soulier syndrome type A1 and platelet-type von Willebrand disease and with increased susceptibility to nonarteritic anterior ischemic optic neuropathy.;

NCI Metathesaurus CUI : CL505030;

GenBank Accession Number : NM_000173;

Details

Origin ID

C126547;

UMLS CUI

C4281938;

Automatic exact mappings (from CISMeF team)
- Barber-say syndrome [OMIM Phenotype]
- Bernard-soulier syndrome [OMIM Phenotype]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-spiegler syndrome [OMIM Phenotype]
- Glycoprotein ib, platelet, alpha polypeptide [OMIM gene]
- Pseudo-von willebrand disease [OMIM Phenotype]
- Rutherford backscattering [IUPAC Term]
- glycoprotein Ib platelet subunit alpha [ORDO Gene]
- platelet glycoprotein GPIb-IX complex [MeSH Descriptor]
- platelet-type bleeding disorder 3 [DO Concept]
OMIM relation
- Glycoprotein ib, platelet, alpha polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.2 [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Platelet Activation [NCIt concept]
- Positive Regulation of Platelet Aggregation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients