Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE
Synonyms	WILSON DISEASE ATP7B ATPase COPPER TRANSPORTING BETA WND
ID	http://purl.bioontology.org/ontology/OMIM/606882
altLabel	WILSON DISEASE ATP7B ATPase COPPER TRANSPORTING BETA WND
cui	C0019202 C1412689
Gene Locus	13q14.3-q21.1
Gene Symbol	ATP7B WND
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606882.0016 http://purl.bioontology.org/ontology/OMIM/606882.0010 http://purl.bioontology.org/ontology/OMIM/606882.0018 http://purl.bioontology.org/ontology/OMIM/606882.0019 http://purl.bioontology.org/ontology/OMIM/606882.0013 http://purl.bioontology.org/ontology/OMIM/606882.0012 http://purl.bioontology.org/ontology/OMIM/606882.0017 http://purl.bioontology.org/ontology/OMIM/606882.0011 http://purl.bioontology.org/ontology/OMIM/606882.0014 http://purl.bioontology.org/ontology/OMIM/606882.0015 http://purl.bioontology.org/ontology/OMIM/606882.0002 http://purl.bioontology.org/ontology/OMIM/606882.0004 http://purl.bioontology.org/ontology/OMIM/606882.0003 http://purl.bioontology.org/ontology/OMIM/606882.0006 http://purl.bioontology.org/ontology/OMIM/606882.0008 http://purl.bioontology.org/ontology/OMIM/606882.0005 http://purl.bioontology.org/ontology/OMIM/606882.0009 http://purl.bioontology.org/ontology/OMIM/606882.0001 http://purl.bioontology.org/ontology/OMIM/606882.0007 http://purl.bioontology.org/ontology/OMIM/606882.0020 http://purl.bioontology.org/ontology/OMIM/606882.0021 http://purl.bioontology.org/ontology/OMIM/606882.0024 http://purl.bioontology.org/ontology/OMIM/606882.0022 http://purl.bioontology.org/ontology/OMIM/606882.0025 http://purl.bioontology.org/ontology/OMIM/606882.0023
MIMTYPEMEANING	Gene with known sequence
notation	606882
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRFRE/10047988	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LP19656-5	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10047988	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10019819	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10019819	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/190823004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006527	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10019819	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICPC2P/T99046	ICPC2P	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88518009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-32310	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D006527	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/88518009	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD10CM/E83.01	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019202	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001510	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/C3510	RCD	CUI
http://purl.bioontology.org/ontology/CSP/1849-4349	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10047988	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190823004	SNOMEDCT	CUI