Nephrocystin 1

Preferred Label : Nephrocystin 1;

Symbol : NPHP1;

CISMeF acronym : NPHP1;

Type : Gene;

Alternative titles and symbols : NPH1;

Ensembl ID : ENSG00000144061;

Prefixed ID : *607100;

Details

Origin ID

607100;

UMLS CUI

C1417782;

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

Keyword's position in hierarchy(ies) :

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