Pseudogene - CISMeF

Preferred Label : Pseudogene;

NCIt definition : Nonfunctional DNA sequences that are very similar to the sequences of known genes. Many seem to have arisen as functional gene duplications that subsequently underwent mutation and loss of function. Others are structurally similar to mRNA and seem to have arisen by a reverse transcription event followed by integration into the genome. Some pseudogenes are transcribed and may play a role in regulation of its homologous gene.;

Alternative definition : CDISC: Genomic DNA sequences that are similar to protein-coding genes but do not encode a functional protein. (HGNC);

Details

Origin ID

C40415;

UMLS CUI

C0033799;

Automatic exact mappings (from CISMeF team)
- F-box and WD repeat domain containing 11 pseudogene 1 [HGNC gene]
- O-acyltransferase like, pseudogene [HGNC gene]
- WAP four-disulfide core domain 21, pseudogene [HGNC gene]
- ZKSCAN8 pseudogene 1 [HGNC gene]
- acyl-CoA:amino acid N-acyltransferase, pseudogene [HGNC gene]
- angiotensin I converting enzyme 3, pseudogene [HGNC gene]
- collagen type VI alpha 4 pseudogene 1 [HGNC gene]
Currated CISMeF NLP mapping
- Pseudogene (substance) [SNOMED CT concept]
- pseudogene [SNOMED Notion]
- pseudogenes [MeSH Descriptor]
- pseudogenes [MeSH concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudogene (substance) [SNOMED CT concept]
- pseudogene [SNOMED Notion]
- pseudogenes [MeSH Descriptor]
- pseudogenes [MeSH concept]
concept_is_in_subset
- CDISC SDTM Genomic Symbol Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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