Online Mendelian Inheritance in Man - ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1
Synonyms	ABC1
ID	http://purl.bioontology.org/ontology/OMIM/600046
altLabel	ABC1 HIGH DENSITY LIPOPROTEIN DEFICIENCY TANGIER DISEASE CHOLESTEROL EFFLUX REGULATORY PROTEIN ATP-BINDING CASSETTE 1 CERP ATP-BINDING CASSETTE TRANSPORTER 1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13 ABCA1 HDLCQ13 CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST ABC TRANSPORTER 1 TANGIER DISEASE, VARIANT
cui	C4016640 C2677643 C1412058 C0039292 C3165209 C1838721
Gene Locus	9q22-q31
Gene Symbol	ABC1 HDLDT1 TGD ABCA1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600046.0014 http://purl.bioontology.org/ontology/OMIM/600046.0016 http://purl.bioontology.org/ontology/OMIM/600046.0008 http://purl.bioontology.org/ontology/OMIM/600046.0009 http://purl.bioontology.org/ontology/OMIM/600046.0007 http://purl.bioontology.org/ontology/OMIM/600046.0011 http://purl.bioontology.org/ontology/OMIM/600046.0012 http://purl.bioontology.org/ontology/OMIM/600046.0024 http://purl.bioontology.org/ontology/OMIM/600046.0004 http://purl.bioontology.org/ontology/OMIM/600046.0025 http://purl.bioontology.org/ontology/OMIM/600046.0005 http://purl.bioontology.org/ontology/OMIM/600046.0006 http://purl.bioontology.org/ontology/OMIM/600046.0019 http://purl.bioontology.org/ontology/OMIM/600046.0017 http://purl.bioontology.org/ontology/OMIM/600046.0013 http://purl.bioontology.org/ontology/OMIM/600046.0018 http://purl.bioontology.org/ontology/OMIM/600046.0010 http://purl.bioontology.org/ontology/OMIM/600046.0020 http://purl.bioontology.org/ontology/OMIM/600046.0002 http://purl.bioontology.org/ontology/OMIM/600046.0021 http://purl.bioontology.org/ontology/OMIM/600046.0001 http://purl.bioontology.org/ontology/OMIM/600046.0015 http://purl.bioontology.org/ontology/OMIM/600046.0023 http://purl.bioontology.org/ontology/OMIM/600046.0022 http://purl.bioontology.org/ontology/OMIM/600046.0003
MIMTYPEMEANING	Gene with known sequence and phenotype
notation	600046
OMIM Entry Type	4
OMIM MimType Value	plus
prefLabel	ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1
tui	T028 T033 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/E78.6	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E78.6	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116410	National Cancer Institute Thesaurus	LOOM
	http://purl.obolibrary.org/obo/PR_000003537	Protein Ontology	LOOM
	http://purl.bioontology.org/ontology/MESH/D013631	Medical Subject Headings	CUI