Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 2

Synonyms

SWP73, YEAST, HOMOLOG OF

ID

http://purl.bioontology.org/ontology/OMIM/601736

altLabel

SWP73, YEAST, HOMOLOG OF

BAF60B

CHROMATIN REMODELING COMPLEX BAF60B SUBUNIT

BRG1-ASSOCIATED FACTOR, 60-KD, B

MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60B

SMARCD2

SPECIFIC GRANULE DEFICIENCY 2

cui

C1335848

C4479548

Gene Locus

17q23-q24

Gene Symbol

SGD2

BAF60B

SMARCD2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601736.0003

http://purl.bioontology.org/ontology/OMIM/601736.0001

http://purl.bioontology.org/ontology/OMIM/601736.0002

MIMTYPEMEANING

Gene with known sequence

notation

601736

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 2

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000015266 Protein Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19843 National Cancer Institute Thesaurus LOOM