rs1162306056, KCNQ3

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509 2015
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
0.010 GeneticVariation BEFREE The mutation in KCNQ3, c.989G>A, was novel and occurred in an infant with BFNS. 25052858 2014
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
0.010 GeneticVariation BEFREE The mutation in KCNQ3, c.989G>A, was novel and occurred in an infant with BFNS. 25052858 2014