Aspartate beta-hydroxylase

Preferred Label : Aspartate beta-hydroxylase;

Symbol : ASPH;

CISMeF acronym : ASPH;

Type : Gene;

Alternative titles and symbols : Aspartyl/asparaginyl-beta-hydroxylase; HAAH; BAH;

Included titles and symbols : Junctin; Junctate; Humbug;

Ensembl ID : ENSG00000198363;

Prefixed ID : *600582;

Details

Origin ID

600582;

UMLS CUI

C1412592;

Automatic exact mappings (from CISMeF team)
- ASPH Gene [NCIt concept]
- ASPH wt Allele [NCIt concept]
- Aspartyl/Asparaginyl Beta-Hydroxylase [NCIt concept]
- Junctate [NCIt concept]
- Junctin-2 [NCIt concept]
- Peptide-aspartate beta-dioxygenase (substance) [SNOMED CT concept]
- aspartate beta-hydroxylase [ORDO Gene]
- aspartate beta-hydroxylase [HGNC gene]
HGNC gene
- aspartate beta-hydroxylase [HGNC gene]
NCIt concept(s)
- ASPH Gene [NCIt concept]
- ASPH wt Allele [NCIt concept]
- Aspartyl/Asparaginyl Beta-Hydroxylase [NCIt concept]
- Junctate [NCIt concept]
- Junctin-1 [NCIt concept]
- Junctin-2 [NCIt concept]
ORDO concept(s)
- aspartate beta-hydroxylase [ORDO Gene]
Phenotypes related
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ASPH Gene [NCIt concept]
- aspartate beta-hydroxylase [HGNC gene]

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