Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ATR GENE
Synonyms	FRAP-RELATED PROTEIN 1
ID	http://purl.bioontology.org/ontology/OMIM/601215
altLabel	FRAP-RELATED PROTEIN 1 SECKEL SYNDROME 1 ATR CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (1 family) FRP1 ATAXIA-TELANGIECTASIA AND RAD3-RELATED
cui	C1332120 C4225576 C0265202
Gene Locus	3q22-q24
Gene Symbol	FRP1 ATR SCKL1 FCTCS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601215.0004 http://purl.bioontology.org/ontology/OMIM/601215.0005 http://purl.bioontology.org/ontology/OMIM/601215.0001 http://purl.bioontology.org/ontology/OMIM/601215.0002 http://purl.bioontology.org/ontology/OMIM/601215.0003
MIMTYPEMEANING	Gene with known sequence
notation	601215
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ATR GENE
tui	T028 T033 T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/Q87.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20560	National Cancer Institute Thesaurus	LOOM