FLNA wt Allele

Preferred Label : FLNA wt Allele;

NCIt synonyms : ABP-280; FLN-A; CSBS; OPD; NHBP; FLN; OPD1; OPD2; Filamin A, Alpha wt Allele; MNS; FMD; CVD1; XLVD; XMVD; ABPX; FLN1;

NCIt definition : Human FLNA wild-type allele is located in the vicinity of Xq28 and is approximately 26 kb in length. This allele, which encodes filamin-A protein, plays a role in actin structure and function. Mutations in this gene are associated with several syndromes, including periventricular nodular heterotopias, otopalatodigital syndrome type 1 and type 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and X-linked congenital idiopathic intestinal pseudoobstruction.;

GenBank Accession Number : NM_001456;

Details

Origin ID

C113586;

UMLS CUI

C3810599;

Automatic exact mappings (from CISMeF team)
- Arterial fibromuscular dysplasia [ICD-11 Subcategory]
- Cardiac valvular dysplasia, X-linked [OMIM Phenotype]
- Congenital short bowel syndrome [OMIM Phenotype]
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
- Fibromuscular dysplasia, arterial [OMIM Phenotype]
- Filamin a [OMIM gene]
- Frontometaphyseal dysplasia 1 [OMIM Phenotype]
- Melnick-Needles syndrome [DO Concept]
- Melnick-needles syndrome [OMIM Phenotype]
- Metaphyseal undermodeling, spondylar dysplasia, and overgrowth [OMIM Phenotype]
- Otopalatodigital syndrome, type I [OMIM Phenotype]
- Otopalatodigital syndrome, type II [OMIM Phenotype]
- Periventricular nodular heterotopia 1 [OMIM Phenotype]
- X-linked cardiac valvular dysplasia [DO Concept]
- electronic health records [MeSH Descriptor]
- filamin A [ORDO Gene]
- filamin C [ORDO Gene]
- frontometaphyseal dysplasia [DO Concept]
- otopalatodigital syndrome type 1 [DO Concept]
- otopalatodigital syndrome type 2 [DO Concept]
- preimplantation diagnosis [MeSH Descriptor]
OMIM relation
- Filamin a [OMIM gene]
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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