Usher Syndrome Type-1G Protein

Preferred Label : Usher Syndrome Type-1G Protein;

NCIt synonyms : Scaffold Protein Containing Ankyrin Repeats and SAM Domain; USH1G;

NCIt definition : Usher syndrome type-1G protein (461 aa, 51 kDa) is encoded by the human USH1G gene. This protein plays a role in retinal and cochlear development.;

Details

Origin ID

C114408;

UMLS CUI

C3811243;

Automatic exact mappings (from CISMeF team)
- Ush1 protein network component sans [OMIM gene]
- Usher syndrome type 1G [DO Concept]
- Usher syndrome, type ig [OMIM Phenotype]
OMIM relation
- Ush1 protein network component sans [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Regulatory Gene [NCIt concept]
- USH1G Gene [NCIt concept]
gene_product_expressed_in_tissue
- Eye [NCIt concept]
- Small Intestine [NCIt concept]
- Vestibule of the Ear [NCIt concept]
gene_product_has_associated_anatomy
- Stereocilium [NCIt concept]
gene_product_has_biochemical_function
- Scaffolding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ankyrin Repeat [NCIt concept]
- SAM Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Eye Development [NCIt concept]
- Hearing [NCIt concept]
- Sight [NCIt concept]

Keyword's position in hierarchy(ies) :

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