rs1553798675, FGF12

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
0.700 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
0.700 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016