Source: ALL

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: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease 1.000 None 0.974 39 15 1994 2018
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0684219
Disease: Myokymia
Myokymia 		phenotype 0.680 strong 1.000 9 0 1994 2018
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease 0.500 strong 1.000 16 0 1994 2017
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1834559
Disease: Continuous Muscle Fiber Activity, Hereditary
Continuous Muscle Fiber Activity, Hereditary 		disease 0.500 None 1.000 3 0 2003 2012
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C2674766
Disease: Myokymia 1
Myokymia 1 		disease 0.300 None 1.000 2 3 2003 2012
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.280 None 1.000 8 2 2001 2019
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease 0.220 None 1.000 4 0 2003 2012
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease 0.200 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.150 None 1.000 5 2 2001 2016
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.150 None 1.000 5 0 2009 2019
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.110 None 1.000 1 0 2020 2020
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease 0.110 None 1.000 1 0 2001 2001
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.110 None 1.000 1 0 2001 2001
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.110 None 1.000 1 1 2016 2016
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.110 None 1.000 1 0 2001 2001
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0