SHH wt Allele - CISMeF

Preferred Label : SHH wt Allele;

NCIt synonyms : SMMCI; HPE3; HLP3; HHG1; MCOPCB5; Sonic Hedgehog Homolog Gene; Sonic Hedgehog Homolog (Drosophila) Gene; TPT; Sonic Hedgehog wt Allele; TPTPS; Sonic Hedgehog (Drosophila) Homolog Gene;

NCIt definition : Human SHH wild type allele is located in the vicinity of 7q36 and is approximately 9 kb in length. This allele, which encodes sonic hedgehog protein, plays a role in bilateral embryonic patterning.;

GenBank Accession Number : NM_000193;

Details

Origin ID

C52937;

UMLS CUI

C1704834;

Automatic exact mappings (from CISMeF team)
- 9 alpha,11 alpha,15 alpha-trihydroxy-16-phenoxy-17,18,19,20-tetranorprosta-4,5,13-trienoic acid [MeSH Supplementary Concept]
- HLP-3 [MeSH concept]
- Holoprosencephaly 3 [OMIM Phenotype]
- Microphthalmia, isolated, with coloboma 5 [OMIM Phenotype]
- Polydactyly, preaxial II [OMIM Phenotype]
- Prenyl diphosphate synthase, subunit 1 [OMIM gene]
- Solitary median maxillary central incisor [OMIM Phenotype]
- TpTp [MeSH Supplementary Concept]
- TpTp [MeSH concept]
- Visinin-like 1 [OMIM gene]
- decaprenyl diphosphate synthase subunit 1 [ORDO Gene]
- holoprosencephaly 3 [DO Concept]
- microphthalmia, isolated, with coloboma 5 [MeSH Supplementary Concept]
- solitary median maxillary central incisor [DO Concept]
- sonic hedgehog signaling molecule [ORDO Gene]
- triose-phosphate:phosphate antiporter activity [GO term]
False automatic mappings
- Solitary median maxillary central incisor syndrome [ORDO Disease]
OMIM relation
- Sonic hedgehog signaling molecule [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_in_chromosomal_location
- 7q36 [NCIt concept]
gene_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
- Basal Cell Carcinoma Pathway [NCIt concept]
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- Glypican 3 Signaling Pathway [NCIt concept]
- Hedgehog Signaling Events Mediated by Gli Family Proteins [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- Ptc1 Regulation of Cell Cycle Pathway [NCIt concept]
- Sonic Hedgehog Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Pattern Formation [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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