NPHP1 Gene - CISMeF

Preferred Label : NPHP1 Gene;

NCIt synonyms : Nephronophthisis 1 (Juvenile) Gene;

NCIt related terms : NPHP1;

CISMeF acronym : NPHP1;

NCIt definition : This gene is involved in the mediation of signal transduction.;

Details

Origin ID

C75861;

UMLS CUI

C1417782;

Automatic exact mappings (from CISMeF team)
- NPHP1 gene [LOINC component]
- Nephrocystin 1 [OMIM gene]
- Nephronophthisis 1 [OMIM Phenotype]
- nephrocystin 1 [ORDO Gene]
HGNC gene
- nephrocystin 1 [HGNC gene]
OMIM relation
- Nephrocystin 1 [OMIM gene]
See also inter- (CISMeF)
- nephronophthisis 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NPHP1 gene [LOINC component]
- Nephrocystin 1 [OMIM gene]
- nephrocystin 1 [HGNC gene]
gene_encodes_gene_product
- Nephrocystin-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Joubert Syndrome 4 [NCIt concept]
- Nephronophthisis 1 [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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