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: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0018681
Disease: Headache
Headache 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.130 None 1.000 0 1 2015 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.500 None 1.000 0 2 1999 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.200 None 1.000 0 1 2012 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype 0.110 None 1.000 0 3 2016 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		phenotype 0.100 None 0 3
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype 0.100 None 0 1