Annotation Detail
Information
- Associated Genes
- TERC
- Associated Variants
-
TERC MUTATION
TERC MUTATION - Associated Disease
- dyskeratosis congenita
- Source Database
- DisGeNET
- Description
- Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent.
- Pubmed
- 25237198
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN,ORPHANET
- DisGENET score for the Gene Disease association
- 0.271772137858252
Drugs