Online Mendelian Inheritance in Man - PARKIN RBR E3 UBIQUITIN PROTEIN LIGASE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	PARKIN RBR E3 UBIQUITIN PROTEIN LIGASE
Synonyms	PARKIN OVARIAN CANCER, SOMATIC PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ADENOCARCINOMA OF LUNG, SOMATIC FRAGILE SITE FRA6E PRKN PARK2
ID	http://purl.bioontology.org/ontology/OMIM/602544
altLabel	PARKIN OVARIAN CANCER, SOMATIC PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ADENOCARCINOMA OF LUNG, SOMATIC FRAGILE SITE FRA6E PRKN PARK2
cui	C1418270 C1969537 C3838632 C1868675
Gene Locus	6q25.2-q27
Gene Symbol	PDJ PARK2 PRKN
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/602544.0017 http://purl.bioontology.org/ontology/OMIM/602544.0016 http://purl.bioontology.org/ontology/OMIM/602544.0013 http://purl.bioontology.org/ontology/OMIM/602544.0019 http://purl.bioontology.org/ontology/OMIM/602544.0012 http://purl.bioontology.org/ontology/OMIM/602544.0010 http://purl.bioontology.org/ontology/OMIM/602544.0015 http://purl.bioontology.org/ontology/OMIM/602544.0011 http://purl.bioontology.org/ontology/OMIM/602544.0014 http://purl.bioontology.org/ontology/OMIM/602544.0018 http://purl.bioontology.org/ontology/OMIM/602544.0020 http://purl.bioontology.org/ontology/OMIM/602544.0021 http://purl.bioontology.org/ontology/OMIM/602544.0023 http://purl.bioontology.org/ontology/OMIM/602544.0022 http://purl.bioontology.org/ontology/OMIM/602544.0001 http://purl.bioontology.org/ontology/OMIM/602544.0004 http://purl.bioontology.org/ontology/OMIM/602544.0005 http://purl.bioontology.org/ontology/OMIM/602544.0009 http://purl.bioontology.org/ontology/OMIM/602544.0006 http://purl.bioontology.org/ontology/OMIM/602544.0008 http://purl.bioontology.org/ontology/OMIM/602544.0003 http://purl.bioontology.org/ontology/OMIM/602544.0002 http://purl.bioontology.org/ontology/OMIM/602544.0007
MIMTYPEMEANING	Gene with known sequence
notation	602544
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PARKIN RBR E3 UBIQUITIN PROTEIN LIGASE
tui	T047 T191 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/LNC/LP35581-5	LOINC	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D020734	MSHFRE	CUI
	http://purl.bioontology.org/ontology/CSP/5004-0064	CRISP	CUI
	http://purl.bioontology.org/ontology/MESH/D020734	MESH	CUI
	http://www.orpha.net/ORDO/Orphanet_124080	ORDO	LOOM
	http://www.case.edu/MDO#PRKN	PMDO	LOOM