H19 wt Allele - CISMeF

Preferred Label : H19 wt Allele;

NCIt synonyms : MGC4485; D11S813E; H19, Imprinted Maternally Expressed Untranslated mRNA wt Allele; PRO2605; ASM1; BWS; ASM; Non-Protein Coding RNA 8 Gene; WT2; NCRNA00008;

NCIt definition : Human H19 wild-type allele is located in the vicinity of 11p15.5 and is approximately 6 kb in length. This allele, which encodes CDNA FLJ32212 fis, clone PLACE6003399, weakly similar to SPIDROIN 1 protein, is an imprinted gene that is only expressed from the maternal allele. The H19 gene plays a putative role in the inhibition of cell growth. This gene is associated with Beckwith-Wiedemann syndrome, embryonal neoplasms and nephroblastoma.;

GenBank Accession Number : NR_002196;

Details

Origin ID

C54405;

UMLS CUI

C1706027;

OMIM relation
- H19, imprinted maternally expressed noncoding transcript [OMIM gene]
See also inter- (CISMeF)
- Wilms tumor 2 [OMIM Phenotype]
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_associated_with_disease
- Beckwith-Wiedemann Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 11: 1979276-1973489 [NCIt concept]
gene_in_chromosomal_location
- 11p15.5 [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Genomic Imprinting [NCIt concept]
- Tumor Suppression [NCIt concept]
- Tumorigenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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