Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RAS p21 PROTEIN ACTIVATOR 1

Synonyms

RASA1

ID

http://purl.bioontology.org/ontology/OMIM/139150

altLabel

RASA1

GTPase-ACTIVATING PROTEIN

GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN

p120 RASGAP

GAP

BASAL CELL CARCINOMA, SOMATIC

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1

cui

C3838465

C4747394

C1419277

Gene Locus

5q13.3

Gene Symbol

PKWS

CMAVM1

RASA1

GAP

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/139150.0003

http://purl.bioontology.org/ontology/OMIM/139150.0008

http://purl.bioontology.org/ontology/OMIM/139150.0002

http://purl.bioontology.org/ontology/OMIM/139150.0001

http://purl.bioontology.org/ontology/OMIM/139150.0005

http://purl.bioontology.org/ontology/OMIM/139150.0006

http://purl.bioontology.org/ontology/OMIM/139150.0004

http://purl.bioontology.org/ontology/OMIM/139150.0007

MIMTYPEMEANING

Gene with known sequence

notation

139150

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

RAS p21 PROTEIN ACTIVATOR 1

tui

T047

T191

T028

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http://www.orpha.net/ORDO/Orphanet_118231 ORDO LOOM