Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SH2 DOMAIN PROTEIN 1A
Synonyms	SH2D1A
ID	http://purl.bioontology.org/ontology/OMIM/300490
altLabel	SH2D1A SLAM-ASSOCIATED PROTEIN SIGNALING LYMPHOCYTE ACTIVATION MOLECULE-ASSOCIATED PROTEIN SAP LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
cui	C1420017 C0549463
Gene Locus	Xq25
Gene Symbol	XLPD1 LYP SH2D1A XLP IMD5
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300490.0007 http://purl.bioontology.org/ontology/OMIM/300490.0003 http://purl.bioontology.org/ontology/OMIM/300490.0014 http://purl.bioontology.org/ontology/OMIM/300490.0008 http://purl.bioontology.org/ontology/OMIM/300490.0009 http://purl.bioontology.org/ontology/OMIM/300490.0010 http://purl.bioontology.org/ontology/OMIM/300490.0011 http://purl.bioontology.org/ontology/OMIM/300490.0012 http://purl.bioontology.org/ontology/OMIM/300490.0004 http://purl.bioontology.org/ontology/OMIM/300490.0006 http://purl.bioontology.org/ontology/OMIM/300490.0005 http://purl.bioontology.org/ontology/OMIM/300490.0013 http://purl.bioontology.org/ontology/OMIM/300490.0002 http://purl.bioontology.org/ontology/OMIM/300490.0001
MIMTYPEMEANING	Gene with known sequence
notation	300490
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SH2 DOMAIN PROTEIN 1A
tui	T191 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/D82.3	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/LNC/LP33341-6	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/D008232	Medical Subject Headings	CUI