Preferred Name

NOTCH3 wt Allele

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C106437

code

C106437

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

Contributing_Source

CTRP

DEFINITION

Human NOTCH3 wild-type allele is located within 19p13.2-p13.1 and is approximately 41 kb in length. This allele, which encodes neurogenic locus notch homolog protein 3, is involved in both cell-cell signaling and cell differentiation. Mutation of the gene is associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Display_Name

NOTCH3 wt Allele

EntrezGene_ID

4854

FULL_SYN

Notch 3 wt Allele

Notch Homolog 3 (Drosophila) Gene

NOTCH3 wt Allele

Notch (Drosophila) Homolog 3 Gene

Notch, Drosophila, Homolog of, 3 Gene

CADASIL

CASIL

Notch Homolog 3 Gene

IMF2

GenBank_Accession_Number

U97669

label

NOTCH3 wt Allele

OMIM_Number

600276

Preferred_Name

NOTCH3 wt Allele

prefixIRI

Thesaurus:C106437

prefLabel

NOTCH3 wt Allele

Semantic_Type

Gene or Genome

UMLS_CUI

C3813553

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C106436

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