Annotation Detail
Information
- Associated Genes
- P2RX7
- Associated Variants
-
P2RX7 MUTATION
P2RX7 MUTATION - Associated Disease
- Thyroid carcinoma
- Source Database
- DisGeNET
- Description
- A polymorphism in exon 13 of the P2X7 receptor gene at the +1513 position (rs3751143>Glu496Ala substitution, corresponding to SNP rs3751143) has been shown to eradicate the function of this receptor and has been correlated with histological variants and clinical parameters in thyroid cancer.
- Pubmed
- 25178922
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs