Annotation Detail

Information
Associated Genes
PNPLA3
Associated Variants
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
Associated Disease
adrenoleukodystrophy
Source Database
DisGeNET
Description
We performed a systematic review of previous studies on the relationship between rs738409 of PNPLA3 and ALD and meta-analysis was conducted in a random-effects model.
Pubmed
25060292
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2014
Drugs