nephrocystin 1

Preferred Label : nephrocystin 1;

Approved symbol HGNC : NPHP1;

Alias symbols HGNC : SLSN1; JBTS4;

Chromosome HGNC : 2q13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000144061;

Détails

Origin ID

HGNC:7905;

UMLS CUI

C1417782;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome 4 [OMIM Phenotype]
- Nephrocystin 1 [OMIM gene]
- Nephronophthisis 1 [OMIM Phenotype]
- Senior-loken syndrome 1 [OMIM Phenotype]
- nephrocystin 1 [ORDO Gene]
NCIt concept
- NPHP1 Gene [NCIt concept]
OMIM gene
- Nephrocystin 1 [OMIM gene]
Orphanet gene
- nephrocystin 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NPHP1 Gene [NCIt concept]
- NPHP1 gene [LOINC component]
- Nephrocystin 1 [OMIM gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients