Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

RAS p21 PROTEIN ACTIVATOR 1

Synonyms

RASA1

ID

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

altLabel

RASA1

CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION

BASAL CELL CARCINOMA, SOMATIC

GTPase-ACTIVATING PROTEIN

PARKES WEBER SYNDROME

GAP

GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN

p120 RASGAP

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

cui

C1419277

C0038505

C3838465

C2675370

C1842180

Gene Locus

5q13.3

Gene Symbol

PKWS

RASA1

GAP

CMAVM

Has allelic variant

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

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

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

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/139150.0008

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

T191

T028

T019

T047

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http://purl.bioontology.org/ontology/MESH/C564254 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564254 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D013341 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 International Classification of Diseases, Version 10 - Clinical Modification CUI