Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
CLPTM1L c.1316-153G>A
(
ENST00000320895.10,
ENST00000507807.3,
ENST00000630539.1 )
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 ) - Associated Disease
- Cleft palate with cleft lip
- Source Database
- DisGeNET
- Description
- Recently, one genome-wide association study (GWAS), conducted exclusively among women of European ancestry, has discovered that cleft lip and palate transmembrane 1-like telomerase reverse transcriptase (CLPTM1L-TERT) rs401681 polymorphism was significantly associated with pancreatic cancer risk.
- Pubmed
- 24577890
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2014
Drugs