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: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		disease 0.800 None 1.000 0 11 2003 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		disease 0.610 None 1.000 0 1 2003 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.410 None 1.000 1 2 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.400 None 1.000 1 2 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		disease 0.200 None 0.917 4 1 2002 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease 0.200 None 1.000 4 7 2002 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.200 None 1.000 1 2 2005 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1865323
Disease: Migraine, Familial Basilar
Migraine, Familial Basilar 		disease 0.110 None 1.000 0 1 2005 2005
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 12 1 1992 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 12 1 1992 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 1.000 1 2 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease 0.100 None 0 2
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype 0.100 None 0 2