Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	GLYCINE N-METHYLTRANSFERASE
Synonyms	GLYCINE N-METHYLTRANSFERASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/606628
altLabel	GLYCINE N-METHYLTRANSFERASE DEFICIENCY GNMT
cui	C1415165 C1847720
Gene Locus	6p12
Gene Symbol	GNMT
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606628.0003 http://purl.bioontology.org/ontology/OMIM/606628.0002 http://purl.bioontology.org/ontology/OMIM/606628.0001
MIMTYPEMEANING	Gene with known sequence
notation	606628
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GLYCINE N-METHYLTRANSFERASE
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP188497-4	LOINC	CUI
http://purl.bioontology.org/ontology/MESH/C564683	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/763720007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/763720007	SCTSPA	CUI
http://purl.obolibrary.org/obo/PR_000008120	OBA	LOOM
http://purl.obolibrary.org/obo/PR_000008120	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000008120	OBA	LOOM
http://purl.obolibrary.org/obo/OMIT_0024606	OMIT	LOOM
http://id.nlm.nih.gov/mesh/D050938	MDM	LOOM
http://www.orpha.net/ORDO/Orphanet_289897	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.913.555.500.387	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_20773	HRDO	LOOM
http://purl.obolibrary.org/obo/MESH_D050938	BERO	LOOM
http://purl.uniprot.org/uniprot/Q14749	FTC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D050938	RH-MESH	LOOM
http://purl.obolibrary.org/obo/PR_000008120	PR	LOOM
http://purl.obolibrary.org/obo/PR_000008120	NIFSTD	LOOM
http://purl.obolibrary.org/obo/dinto_0607	DINTO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020801	PMAPP-PMO	LOOM
http://purl.jp/bio/4/id/200906096844757348	IOBC	LOOM
http://purl.bioontology.org/ontology/MESH/D050938	MESH	LOOM