Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	GALACTOKINASE 1
Synonyms	GALK1
ID	http://purl.bioontology.org/ontology/OMIM/604313
altLabel	GALK1 GK1 GALK GALACTOSEMIA II
cui	C1414948 C0268155
Gene Locus	17q24
Gene Symbol	GALK1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/604313.0002 http://purl.bioontology.org/ontology/OMIM/604313.0001 http://purl.bioontology.org/ontology/OMIM/604313.0005 http://purl.bioontology.org/ontology/OMIM/604313.0004 http://purl.bioontology.org/ontology/OMIM/604313.0003 http://purl.bioontology.org/ontology/OMIM/604313.0006
MIMTYPEMEANING	Gene with known sequence
notation	604313
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GALACTOKINASE 1
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005693	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E74.29	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124302001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-50520	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/RCD/C3111	RCD	CUI
http://purl.bioontology.org/ontology/LNC/LA12542-9	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/LP56782-3	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/124302001	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021612	LOINC	CUI
http://www.orpha.net/ORDO/Orphanet_121999	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16094	HRDO	LOOM