Annotation Detail

Information
Associated Genes
MUC5B
Associated Variants
MUC5B SNV
MUC5B c.-3133G>T
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
MUC5B SNV
MUC5B c.-3133G>T
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
Idiopathic Pulmonary Fibrosis
Source Database
DisGeNET
Description
Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF sporadic ILD were tested using 227 patients with ILD and 689 control subjects.
Pubmed
24434656
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.364343069953285
Year of publication
2013
Drugs