Annotation Detail
Information
- Associated Genes
- CLPTM1L
- 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
- Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate transmembrane 1-like gene (CLPTM1L), have been implicated in susceptibility to lung cancer through genome-wide association studies (GWAS); however, subsequent replication studies yielded controversial results.
- Pubmed
- 23653681
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00407162808120455
- Year of publication
- 2013
Drugs