Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN
Synonyms	PNKD
ID	http://purl.bioontology.org/ontology/OMIM/609023
altLabel	PNKD TAHCCP2 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 KIAA1184 BRP17 MYOFIBRILLOGENESIS REGULATOR 1 BRAIN PROTEIN 17, MOUSE, HOMOLOG OF MR1 TRANSACTIVATED BY HEPATITIS C VIRUS CORE PROTEIN 2
cui	C1418706 C4551506
Gene Locus	2q35
Gene Symbol	PDC PNKD KIPP1184 TAHCCP2 BRP17 FPD1 DYT8 R1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/609023.0003 http://purl.bioontology.org/ontology/OMIM/609023.0001 http://purl.bioontology.org/ontology/OMIM/609023.0002
MIMTYPEMEANING	Gene with known sequence
notation	609023
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PNKD METALLO-BETA-LACTAMASE DOMAIN-CONTAINING PROTEIN
tui	T047 T028

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/LNC/LP71437-5	LOINC	CUI
	http://purl.bioontology.org/ontology/MESH/C537181	MESH	CUI