Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	ATAXIN 2
Synonyms	ATXN2 PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO SPINOCEREBELLAR ATAXIA 2 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13
ID	http://purl.bioontology.org/ontology/OMIM/601517
altLabel	ATXN2 PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO SPINOCEREBELLAR ATAXIA 2 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13
cui	C0752121 C3148775 C1538299 C3149907
Gene Locus	12q24
Gene Symbol	ATXN2 SCA2 ASL13 ATX2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601517.0001 http://purl.bioontology.org/ontology/OMIM/601517.0002
MIMTYPEMEANING	Gene with known sequence
notation	601517
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ATAXIN 2
tui	T047 T033 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/715751004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020754	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D020754	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/715751004	SCTSPA	CUI
http://purl.obolibrary.org/obo/PR_000004505	OBA	LOOM
http://purl.obolibrary.org/obo/MESH_D000067698	BERO	LOOM
http://www.orpha.net/ORDO/Orphanet_118923	ORDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/20239	NIFSTD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124928	NCIT	LOOM
http://purl.jp/bio/4/id/201606011100082849	IOBC	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022253	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C124928	BERO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15338	HRDO	LOOM
http://id.nlm.nih.gov/mesh/D000067698	MDM	LOOM
http://purl.obolibrary.org/obo/OMIT_0001206	OMIT	LOOM
http://purl.obolibrary.org/obo/PR_000004505	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004505	CCONT	LOOM
http://purl.obolibrary.org/obo/PR_000004505	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000004505	NIFSTD	LOOM
http://purl.bioontology.org/ontology/MESH/D000067698	MESH	LOOM