Online Mendelian Inheritance in Man - HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1 - Classes

Preferred Name	HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1
Synonyms	PRKCNH1
ID	http://purl.bioontology.org/ontology/OMIM/601314
altLabel	PRKCNH1 HINT PROTEIN KINASE C INHIBITOR 1 PROTEIN KINASE C-INTERACTING PROTEIN 1 PKCI1 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HINT1
cui	C1415545 C0242287
Gene Locus	5q31.2
Gene Symbol	PRKCNH1 NMAN HINT1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601314.0004 http://purl.bioontology.org/ontology/OMIM/601314.0005 http://purl.bioontology.org/ontology/OMIM/601314.0006 http://purl.bioontology.org/ontology/OMIM/601314.0001 http://purl.bioontology.org/ontology/OMIM/601314.0003 http://purl.bioontology.org/ontology/OMIM/601314.0002 http://purl.bioontology.org/ontology/OMIM/601314.0007
MIMTYPEMEANING	Gene with known sequence
Moved from	601640
notation	601314
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D020386	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/PR_000008561	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.19	International Classification of Diseases, Version 10 - Clinical Modification	CUI