cystatin B - CISMeF

Preferred Label : cystatin B;

Approved symbol HGNC : CSTB;

Name synonyms HGNC : Epilepsy; progressive myoclonic 1; stefin B;

Alias symbols HGNC : PME; CST6;

Chromosome HGNC : 21q22.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000160213;

Details

Origin ID

HGNC:2482;

UMLS CUI

C1332798;

Automatic exact mappings (from CISMeF team)
- Cystatin 6 [OMIM gene]
- Cystatin b [OMIM gene]
- Cystatin-B [NCIt concept]
- EPILEPSY [WHO-ART Included Term]
- Epilepsy [LOINC component]
- Epilepsy [LOINC method]
- Epilepsy [ICPC-2 Rubric]
- Epilepsy [HPMULTI term]
- Epilepsy [MedDRA Preferred Term]
- Epilepsy [PASCAL descriptor]
- Epilepsy (disorder) [SNOMED CT concept]
- Seizure [HPO term]
- Seizure Disorder [NCIt concept]
- cystatin B [ORDO Gene]
- cystatin B [MeSH concept]
- epilepsy [MeSH Descriptor]
- epilepsy [DO Concept]
- epilepsy [MeSH concept]
- epilepsy [MedlinePlus Topic]
NCIt concept
- CSTB Gene [NCIt concept]
OMIM gene
- Cystatin b [OMIM gene]
Orphanet gene
- cystatin B [ORDO Gene]
See also inter- (CISMeF)
- cystatin B [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CSTB Gene [NCIt concept]
- CSTB gene [LOINC component]
- Cystatin b [OMIM gene]

Keyword's position in hierarchy(ies) :

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