RASA1 wt Allele

Preferred Label : RASA1 wt Allele;

NCIt synonyms : CMAVM; RASGAP; PKWS; DKFZp434N071; RAS p21 Protein Activator (GTPase Activating Protein) 1 Gene; p120RASGAP; GAP; RASA; p120GAP; CM-AVM; Capillary Malformation-Arteriovenous Malformation Gene; RAS p21 Protein Activator 1 wt Allele;

NCIt definition : Human RASA1 wild-type allele is located in the vicinity of 5q13.3 and is approximately 124 kb in length. This allele, which encodes Ras GTPase-activating protein 1, plays a role in the regulation of guanidine triphosphate hydrolysis. Mutation of the gene is associated with capillary malformation-arteriovenous malformation, Parkes Weber syndrome and basal cell carcinomas.;

NCIt note : The RASA1 gene may be involved in tumor angiogenesis.;

GenBank Accession Number : NM_002890;

Details

Origin ID

C91776;

UMLS CUI

C2984552;

Automatic exact mappings (from CISMeF team)
- Capillary malformation-arteriovenous malformation [ICD-11 More detail]
- Capillary malformation-arteriovenous malformation 1 [OMIM Phenotype]
- Parkes weber syndrome [OMIM Phenotype]
- RAS p21 protein activator 1 [ORDO Gene]
- Ras p21 protein activator 1 [OMIM gene]
- capillary Malformation-Arteriovenous malformation [MeSH Supplementary Concept]
- p120 GTPase activating protein [MeSH Descriptor]
- p120 GTPase activating protein [MeSH concept]
- ras GTPase-Activating proteins [MeSH Descriptor]
- section gap [Radlex concept]
False automatic mappings
- Capillary malformation-arteriovenous malformation [ORDO Disease]
OMIM relation
- Ras p21 protein activator 1 [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_is_element_in_pathway
- Angiopoietin-1 Receptor Signaling Pathway [NCIt concept]
- Aurora A Signaling Pathway [NCIt concept]
- Aurora B Signaling Pathway [NCIt concept]
- Axon Guidance Pathway [NCIt concept]
- BCR Immune Response Signaling Pathway [NCIt concept]
- EGF Signaling Pathway [NCIt concept]
- Ephrin B Forward Signaling Pathway [NCIt concept]
- Fc-Epsilon Receptor I Signaling Pathway PID [NCIt concept]
- IGF-1 Signaling Pathway [NCIt concept]
- IL2-Mediated Signaling Pathway [NCIt concept]
- Insulin Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Neurotrophic Factor-Mediated NTRK1 Signaling Pathway [NCIt concept]
- PDGF Signaling Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- Sprouty Regulation of Tyrosine Kinase Signaling Pathway [NCIt concept]
- Syndecan-2-Mediated Signaling Pathway [NCIt concept]
- TPO Signaling Pathway [NCIt concept]
- VEGFR1 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Apoptosis [NCIt concept]
- Negative Regulation of Cell-Matrix Adhesion [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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