ADAR wt Allele

Preferred Label : ADAR wt Allele;

NCIt synonyms : DRADA; Adenosine Deaminase, RNA Specific wt Allele; IFI-4; Adenosine Deaminase, RNA-Specific Gene; Adenosine Deaminase, RNA-Specific, 1 Gene; DSH; ADAR1; Adenosine Deaminase Acting on RNA 1 Gene; P136; K88DSRBP; DSRAD; IFI4; AGS6; G1P1;

NCIt definition : Human ADAR wild-type allele is located in the vicinity of 1q21.3 and is approximately 46 kb in length. This allele, which encodes double-stranded RNA-specific adenosine deaminase protein, is involved in ribonucleotide deamination. Mutations in the gene are associated with dyschromatosis symmetrica hereditaria and Aicardi-Goutieres syndrome type 6.;

NCI Metathesaurus CUI : CL937017;

GenBank Accession Number : BC038227;

Details

Origin ID

C157284;

UMLS CUI

C4761345;

Automatic exact mappings (from CISMeF team)
- 2'-5'-oligoadenylate synthetase 1 [ORDO Gene]
- Dishevelled 1-like 1 [OMIM gene]
- adenosine deaminase RNA specific [ORDO Gene]
OMIM relation
- Adenosine deaminase, rna-specific [OMIM gene]
See also inter- (CISMeF)
- Aicardi-goutieres syndrome 6 [OMIM Phenotype]
- Dyschromatosis symmetrica hereditaria [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Adenosine deaminase, rna-specific [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q21.3 [NCIt concept]
gene_is_element_in_pathway
- Cytosolic DNA-Sensing Pathway [NCIt concept]
- RNA Polymerase III Transcription Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Immune Response Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Interference [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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