Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	KIAA1279 GENE
Synonyms	GOLDBERG-SHPRINTZEN SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/609367
altLabel	GOLDBERG-SHPRINTZEN SYNDROME KBP KIAA1279 KINESIN-BINDING PROTEIN
cui	C1428077 C1836123
Gene Locus	10q22.1
Gene Symbol	KIAA1279
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/609367.0003 http://purl.bioontology.org/ontology/OMIM/609367.0004 http://purl.bioontology.org/ontology/OMIM/609367.0005 http://purl.bioontology.org/ontology/OMIM/609367.0002 http://purl.bioontology.org/ontology/OMIM/609367.0001
MIMTYPEMEANING	Gene with known sequence
notation	609367
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	KIAA1279 GENE
tui	T028 T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537279	Medical Subject Headings	CUI