FLG wt Allele - CISMeF

Preferred Label : FLG wt Allele;

NCIt synonyms : Filaggrin wt Allele; ATOD2;

NCIt definition : Human FLG wild-type allele is located in the vicinity of 1q21.3 and is approximately 23 kb in length. This allele, which encodes filaggrin protein, plays a role in promoting disulfide-bond formation in intermediate filaments. Mutations in this gene are associated with ichthyosis vulgaris and with susceptibility to atopic dermatitis type 2.;

GenBank Accession Number : NM_002016;

Details

Origin ID

C112149;

UMLS CUI

C3815267;

Automatic exact mappings (from CISMeF team)
- atopic dermatitis 2 [DO Concept]
OMIM relation
- Filaggrin [OMIM gene]
See also inter- (CISMeF)
- Dermatitis, atopic, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]

Keyword's position in hierarchy(ies) :

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