ALPL wt Allele

Preferred Label : ALPL wt Allele;

NCIt synonyms : AP-TNAP; TNSALP; APTNAP; Alkaline Phosphatase, Biomineralization Associated wt Allele; TNAP; HOPS; Alkaline Phosphatase, Liver/Bone/Kidney Gene; TNS-ALP; HPPC; HPPA; HPPI; HPPO;

NCIt definition : Human ALPL wild-type allele is located in the vicinity of 1p36.12 and is approximately 69 kb in length. This allele, which encodes alkaline phosphatase, tissue-nonspecific isozyme protein, may be involved in matrix mineralization. Mutations in this gene are associated with infantile, childhood and adult hypophosphatasias and odontohypophosphatasia.;

GenBank Accession Number : BC021289;

Details

Origin ID

C104231;

UMLS CUI

C3538885;

Automatic exact mappings (from CISMeF team)
- Alkaline phosphatase, liver [OMIM gene]
- Hopping (observable entity) [SNOMED CT concept]
- Humulus lupulus (organism) [SNOMED CT concept]
- Hypophosphatasia, infantile [OMIM Phenotype]
- alkaline phosphatase, biomineralization associated [ORDO Gene]
- humulus [MeSH Descriptor]
- infantile hypophosphatasia [DO Concept]
False automatic mappings
- Hop (Humulus lupus) [LOINC component]
OMIM relation
- Alkaline phosphatase, liver [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]
gene_in_chromosomal_location
- 1p36.12 [NCIt concept]
gene_is_element_in_pathway
- Folate Biosynthesis Pathway [NCIt concept]
- Thiamine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Mineralization [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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