SLITRK6 wt Allele

Preferred Label : SLITRK6 wt Allele;

NCIt synonyms : SLIT and NTRK-Like Family, Member 6 Gene; FLJ22774; SLIT- and NTRK-Like Family, Member 6 Gene; DFNMYP; Slit and Trk Like Gene 6; SLIT and NTRK Like Family Member 6 wt Allele;

NCIt definition : Human SLITRK6 wild-type allele is located 13q31.1 and is approximately 14 kb in length. This allele, which encodes SLIT and NTRK-like protein 6, is involved in hearing and vision. Nonsense mutations in the gene are associated with autosomal recessive deafness and myopia.;

NCI Metathesaurus CUI : CL1647656;

GenBank Accession Number : AK026427;

Details

Origin ID

C178175;

UMLS CUI

C5550971;

Automatic exact mappings (from CISMeF team)
- Deafness and myopia [OMIM Phenotype]
- SLIT and NTRK like family member 6 [ORDO Gene]
- high myopia-sensorineural deafness syndrome [DO Concept]
OMIM relation
- Slit- and ntrk-like family, member 6 [OMIM gene]
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
- Histogenic Process [NCIt concept]
- Neural Development [NCIt concept]
- Sensation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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