coiled-coil and C2 domain containing 1A

Preferred Label : coiled-coil and C2 domain containing 1A;

Approved symbol HGNC : CC2D1A;

Name synonyms HGNC : mental retardation; Akt Kinase-Interacting Protein 1; nonsyndromic; autosomal recessive; 3; Five prime repressor element under dual repression-binding protein 1; TBK1-associated protein in endolysosomes; lethal (2) giant discs homolog 2;

Alias symbols HGNC : MRT3; FLJ20241; Freud-1; Aki-1; TAPE; Lgd2;

Chromosome HGNC : 19p13.12;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000132024;

Détails

Origin ID

HGNC:30237;

UMLS CUI

C1824539;

Automatic exact mappings (from CISMeF team)
- 3 (qualifier value) [SNOMED CT concept]
- AN 3 [MeSH concept]
- AN 3 [MeSH Supplementary Concept]
- Autosomal Recessive Inheritance [NCIt concept]
- Autosomal recessive inheritance [HPO term]
- Autosomal recessive inheritance (qualifier value) [SNOMED CT concept]
- Clinical Status Ordinal Scale Outcome 3 [NCIt concept]
- Coiled-coil and c2 domains-containing protein 1a [OMIM gene]
- Current Reformed Smoker, More than 15 Years [NCIt concept]
- Disorders of intellectual development [ICD-11 Category]
- Gleason Grade Group 3 [NCIt concept]
- HIPAA Attachments [LOINC Class]
- Illness Intrusiveness Rating 3 [NCIt concept]
- Intellectual developmental disorder, autosomal recessive 3 [OMIM Phenotype]
- Intellectual disability [HPO term]
- Intellectual disability (disorder) [SNOMED CT concept]
- Intensity and Distress 3 [NCIt concept]
- Mental Retardation [NCIt concept]
- Mental retardation [PASCAL descriptor]
- Mental retardation [MedDRA LLT]
- Mental retardation [DSM-IV chapter]
- Neck Pain Score 3 [NCIt concept]
- Persons with Intellectual Disabilities [MeSH Descriptor]
- Phase III Trial [NCIt concept]
- Retardation mental [MedDRA LLT]
- Severe Adverse Event [NCIt concept]
- Severity of Symptom Score 3 [NCIt concept]
- Symptoms Extent Score 3 [NCIt concept]
- Thought Score 3 [NCIt concept]
- Three [NCIt concept]
- Three Full Term Pregnancies [NCIt concept]
- Tumor Regression Score 3 [NCIt concept]
- Upset Score 3 [NCIt concept]
- Worry Score 3 [NCIt concept]
- coiled-coil and C2 domain containing 1A [ORDO Gene]
- developmental disabilities [MedlinePlus Topic]
- intellectual disability [MeSH Descriptor]
- intellectual disability [DO Concept]
- intellectual disability [MeSH concept]
- mental retardation [Radlex concept]
- mental retardation [ICPC-2 Rubric]
- non-syndromic [Radlex concept]
False automatic mappings
- ECOG Performance Status 3 [NCIt concept]
- Fear Score 3 [NCIt concept]
OMIM gene
- Coiled-coil and c2 domains-containing protein 1a [OMIM gene]
Orphanet gene
- coiled-coil and C2 domain containing 1A [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Coiled-coil and c2 domains-containing protein 1a [OMIM gene]

Position du mot-clé dans l'(les) arborescence(s) :

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