rs786204929, PTEN

N. diseases: 12
Disease: Seizures, Focal ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
0.010 GeneticVariation BEFREE We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene. 22469695 2012