ZNF423 wt Allele

Preferred Label : ZNF423 wt Allele;

NCIt synonyms : KIAA0760; hOAZ; ZFP104; Zinc Finger Protein 423 wt Allele; Roaz; Ebfaz; OAZ; ZFP423; NPHP14;

NCIt definition : Human ZNF423 wild-type allele is located in the vicinity of 16q12 and is approximately 370 kb in length. This allele, which encodes zinc finger protein 423, plays a role in differentiation and maturation of olfactory receptor neurons. Mutations in this gene are associated with Joubert syndrome 19 and nephronophthisis 14.;

GenBank Accession Number : NM_015069;

Details

Origin ID

C104960;

UMLS CUI

C3539726;

OMIM relation
- Zinc finger protein 423 [OMIM gene]
See also inter- (CISMeF)
- Nephronophthisis 14 [OMIM Phenotype]
- nephronophthisis 14 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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