SYP wt Allele - CISMeF

Preferred Label : SYP wt Allele;

NCIt synonyms : MRX96; MRXSYP; Synaptophysin wt Allele;

NCIt definition : Human SYP wild-type allele is located within Xp11.23-p11.22 and is approximately 12 kb in length. This allele, which encodes synaptophysin protein, plays a role in synaptic functions. Mutation of the gene is associated with SYP-related mental retardation X-linked.;

GenBank Accession Number : X06389;

Details

Origin ID

C101145;

UMLS CUI

C3539703;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked 96 [OMIM Phenotype]
- mental retardation, X-Linked, Syp-Related [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability 96 [DO Concept]
- synaptophysin [ORDO Gene]
OMIM relation
- Synaptophysin [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
- Ligand Binding [NCIt concept]
- Membrane Protein Traffic [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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