Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		disease 0.700 None 1.000 47 104 1998 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		disease 0.700 None 1.000 30 87 1998 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.500 None 1.000 23 16 1984 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		disease 0.200 None 0.962 5 5 1999 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.200 None 1.000 0 7 2003 2020
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.150 None 1.000 30 26 2001 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 1 2008 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		disease 0.120 None 1.000 3 2 1997 2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.110 None 1.000 29 2 1980 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 29 2 1980 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 29 1 1980 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 29 1 1980 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease 0.100 None 1.000 8 8 2003 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 1.000 1 1 2005 2005
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C2751195
Disease: Epilepsy, Benign Neonatal, 1, And-Or Myokymia
Epilepsy, Benign Neonatal, 1, And-Or Myokymia 		disease 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C3149075
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA 		disease 0.100 None 0 2
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 2
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype 0.100 None 0 2