rs118192212, KCNQ2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign Rolandic Epilepsy
CUI: C2363129
Disease: Benign Rolandic Epilepsy
0.700 CausalMutation CLINVAR KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 22884718 2012
Benign Rolandic Epilepsy
CUI: C2363129
Disease: Benign Rolandic Epilepsy
0.700 CausalMutation CLINVAR A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 18640800 2009
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 CausalMutation CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR