About: RASA1 wt Allele

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About: RASA1 wt Allele Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Class
rdfs:label	RASA1 wt Allele
rdfs:subClassOf	RASA1 Gene nodeID://b706512 nodeID://b706513 nodeID://b706514 nodeID://b706515 nodeID://b706516 nodeID://b706517 nodeID://b706518 nodeID://b706519 nodeID://b706520 nodeID://b706521 nodeID://b706522 nodeID://b706523 nodeID://b706524 nodeID://b706525 nodeID://b706526 nodeID://b706527 nodeID://b706528 nodeID://b706529 nodeID://b706530
OMIM_Number	139150
GenBank_Accession_Number	NM_002890
Semantic_Type	Gene or Genome
Preferred_Name	RASA1 wt Allele
UMLS_CUI	C2984552
EntrezGene_ID	5921
HGNC_ID	HGNC:9871
FULL_SYN	GAPSYNCI DKFZp434N071SYNCI Capillary Malformation-Arteriovenous Malformation GeneSYNCI RASA1 wt AllelePTNCI RAS p21 Protein Activator (GTPase Activating Protein) 1 wt AlleleSYNCI RASASYNCI PKWSSYNCI CMAVMSYNCI CM-AVMSYNCI RASGAPSYNCI p120GAPSYNCI p120RASGAPSYNCI
DEFINITION	NCIHuman 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.
DesignNote	The RASA1 gene may be involved in tumor angiogenesis.
code	C91776

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