Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	ATM serine/threonine kinase
Synonyms	TELO1 TEL1, telomere maintenance 1, homolog (S. cerevisiae) TEL1
ID	http://www.orpha.net/ORDO/Orphanet_121474
alternative_term	TELO1 TEL1, telomere maintenance 1, homolog (S. cerevisiae) TEL1
hasDbXref	OMIM:607585 Ensembl:ENSG00000149311 SwissProt:Q13315 Reactome:Q13315 ClinVar:ATM Genatlas:ATM IUPHAR:1934 HGNC:795
label	ATM serine/threonine kinase
prefixIRI	ORDO:Orphanet_121474
prefLabel	ATM serine/threonine kinase
symbol	ATM
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/607585	OMIM	LOOM