Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	SECRETION-ASSOCIATED RAS-RELATED GTPase 1B
Synonyms	SARA2
ID	http://purl.bioontology.org/ontology/OMIM/607690
altLabel	SARA2 CHYLOMICRON RETENTION DISEASE SAR1A, S. CEREVISIAE, HOMOLOG 2 SAR1B SAR1, S. CEREVISIAE, HOMOLOG B
cui	C1419816 C0795956
Gene Locus	5q31.1
Gene Symbol	ANDD SAR1B CMRD SARA2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607690.0005 http://purl.bioontology.org/ontology/OMIM/607690.0006 http://purl.bioontology.org/ontology/OMIM/607690.0002 http://purl.bioontology.org/ontology/OMIM/607690.0004 http://purl.bioontology.org/ontology/OMIM/607690.0001 http://purl.bioontology.org/ontology/OMIM/607690.0007 http://purl.bioontology.org/ontology/OMIM/607690.0003 http://purl.bioontology.org/ontology/OMIM/607690.0008
MIMTYPEMEANING	Gene with known sequence
notation	607690
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SECRETION-ASSOCIATED RAS-RELATED GTPase 1B
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/702364003	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.3	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702364003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C535460	MESH	CUI
http://www.orpha.net/ORDO/Orphanet_118465	ORDO	LOOM