rs1285675735, SORD

N. diseases: 6
Disease: Agenesis of corpus callosum ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
0.010 GeneticVariation BEFREE TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%). 24951106 2014