GRN wt Allele - CISMeF

Preferred Label : GRN wt Allele;

NCIt synonyms : GP88; PCDGF; CLN11; GEP; Granulin Precursor wt Allele; PGRN; PEPI; Granulin Gene; Glycoprotein, 88-kD Gene; Granulin-Epithelin Gene;

NCIt definition : Human GRN wild-type allele is located in the vicinity of 17q21.32 and is approximately 8 kb in length. This allele, which encodes progranulin protein, plays a role in wound healing, lysosome acidification and the modulation of inflammation. Mutation of the gene is associated with primary progressive aphasia, neuronal ceroid lipofuscinosis type 11 and ubiquitin-positive frontotemporal dementia.;

GenBank Accession Number : M75161;

Details

Origin ID

C101402;

UMLS CUI

C3539613;

Automatic exact mappings (from CISMeF team)
- Ceroid lipofuscinosis, neuronal, 11 [OMIM Phenotype]
- Granulin precursor [OMIM gene]
- granulin precursor [ORDO Gene]
- neuronal ceroid lipofuscinosis 11 [DO Concept]
OMIM relation
- Granulin precursor [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
- 17q21.32 [NCIt concept]
gene_is_element_in_pathway
- Wound Repair Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Receptor Activation [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Nerve Cell Survival [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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