Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	CHOLINE ACETYLTRANSFERASE
Synonyms	CHAT MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
ID	http://purl.bioontology.org/ontology/OMIM/118490
altLabel	CHAT MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
cui	C1413376 C0393929
Gene Locus	10q11.2
Gene Symbol	CHAT CMS6
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/118490.0001 http://purl.bioontology.org/ontology/OMIM/118490.0003 http://purl.bioontology.org/ontology/OMIM/118490.0005 http://purl.bioontology.org/ontology/OMIM/118490.0002 http://purl.bioontology.org/ontology/OMIM/118490.0007 http://purl.bioontology.org/ontology/OMIM/118490.0004 http://purl.bioontology.org/ontology/OMIM/118490.0008 http://purl.bioontology.org/ontology/OMIM/118490.0009 http://purl.bioontology.org/ontology/OMIM/118490.0006 http://purl.bioontology.org/ontology/OMIM/118490.0010 http://purl.bioontology.org/ontology/OMIM/118490.0011
MIMTYPEMEANING	Gene with known sequence
notation	118490
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CHOLINE ACETYLTRANSFERASE
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/230670003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C535759	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230670003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X00Cc	RCD	CUI
http://purl.bioontology.org/ontology/CSP/2954-6575	CRISP	LOOM
http://uri.neuinfo.org/nif/nifstd/sao722953401	NPOKB	LOOM
http://uri.neuinfo.org/nif/nifstd/sao722953401	NIFSTD	LOOM
http://purl.bioontology.org/ontology/SNMI/F-68438	SNMI	LOOM
http://purl.bioontology.org/ontology/CSP/2954-6575	CRISP	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/50140001	SNOMEDCT	LOOM
http://ccdb.ucsd.edu/SAO/1.2#sao722953401	SAO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0008407	OCHV	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15442	HRDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/12647	NIFSTD	LOOM