Apolipoprotein a-I

Preferred Label : Apolipoprotein a-I;

Symbol : APOA1;

CISMeF acronym : APOA1;

Type : Gene;

Alternative titles and symbols : Apolipoprotein of high density lipoprotein;

Included titles and symbols : Apoa1/apoc3 fusion gene;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the apolipoprotein A-I gene ();

Laboratory abnormalities : Low to absent APO A-I (Detroit 107680.0011); Low to absent high density lipoprotein (HDL) (Detroit 107680.0011); Amyloidosis, (Iowa type 107680.0010, nonneuropathic 107680.0016);

Ensembl ID : ENSG00000118137;

Prefixed ID : *107680;

Details

Origin ID

107680;

UMLS CUI

C1412468;

Automatic exact mappings (from CISMeF team)
- APOA1 Gene [NCIt concept]
- APOA1 gene [LOINC component]
- APOA1/APOC3 Fusion Gene [NCIt concept]
- Apo-A1 [MedDRA LLT]
- Apolipoprotein A-I [NCIt concept]
- Apolipoprotein A1 Measurement [NCIt concept]
- apolipoprotein A1 [HGNC gene]
Currated CISMeF NLP mapping
- Apolipoprotein A-I [LOINC component]
- Apolipoprotein A-I [MedDRA Preferred Term]
- Apolipoprotein A-I (substance) [SNOMED CT concept]
- apolipoprotein A-I [MeSH Descriptor]
- apolipoprotein A-I [MeSH concept]
- apolipoprotein A1 [ORDO Gene]
- apolipoprotein a-i [SNOMED Notion]
False automatic mappings
- clusterin [MeSH Descriptor]
HGNC gene
- apolipoprotein A1 [HGNC gene]
NCIt concept(s)
- APOA1 Gene [NCIt concept]
- APOA1 wt Allele [NCIt concept]
- Apolipoprotein A-I [NCIt concept]
ORDO concept(s)
- apolipoprotein A1 [ORDO Gene]
Phenotypes related
- Amyloidosis, hereditary systemic 3 [OMIM Phenotype]
- Hypoalphalipoproteinemia, primary, 2 [OMIM Phenotype]
- Hypoalphalipoproteinemia, primary, 2, intermediate [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- APOA1 Gene [NCIt concept]
- APOA1 gene [LOINC component]
- apolipoprotein A1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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