Annotation Detail

Information
Associated Genes
SIM1
Associated Variants
SIM1 p.Pro352Ser (p.P352S) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 p.Pro352Thr (p.P352T) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 p.Pro352Ser (p.P352S) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 p.Pro352Thr (p.P352T) ( ENST00000262901.4, ENST00000369208.8 )
Associated Disease
Language Disorders
Source Database
DisGeNET
Description
Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously.
Pubmed
24635660
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs