NEUROD1 wt Allele

Preferred Label : NEUROD1 wt Allele;

NCIt synonyms : BHF-1; MODY6; NeuroD; Beta-Cell E-Box Transactivator 2 Gene; BHLHA3; BETA2; Neurogenic Helix-Loop-Helix Protein NEUROD Gene; NIDDM; Neuronal Differentiation 1 wt Allele; Neurogenic Differentiation 1 Gene;

NCIt definition : Human NEUROD1 wild-type allele is located in the vicinity of 2q32 and is approximately 8 kb in length. This allele, which encodes neurogenic differentiation factor 1 protein, is involved in both DNA binding and transcriptional activation. Mutation of the gene is associated with both maturity-onset diabetes of the young type 6 and type 2 diabetes mellitus.;

GenBank Accession Number : U50823;

Details

Origin ID

C98201;

UMLS CUI

C3273872;

Automatic exact mappings (from CISMeF team)
- Diabetes mellitus type 2 (disorder) [SNOMED CT concept]
- MODY, type 6 [MeSH Supplementary Concept]
- Maturity onset diabetes [MedDRA LLT]
- Maturity-onset diabetes of the young, type 6 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 6 (disorder) [SNOMED CT concept]
- NIDDM [MedDRA LLT]
- Neurogenic differentiation 1 [OMIM gene]
- Type 2 diabetes mellitus [OMIM Phenotype]
- Type 2 diabetes mellitus [ICD-11 Category]
- Type II diabetes mellitus [HPO term]
- diabetes mellitus, type 2 [MeSH Descriptor]
- maturity-onset diabetes of the young type 6 [DO Concept]
- neuronal differentiation 1 [ORDO Gene]
- type 2 diabetes mellitus [DO Concept]
- type 2 diabetes mellitus [Artificial nutrition thesaurus concept]
OMIM relation
- Neurogenic differentiation 1 [OMIM gene]
See also inter- (CISMeF)
- Maturity-onset diabetes of the young, type 6 (disorder) [SNOMED CT concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q32 [NCIt concept]
gene_is_element_in_pathway
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Neural Development [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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