Source: GENOMICS_ENGLAND

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 5 0 2003 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
disease 0.610 None 1.000 3 0 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 0 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group 0.400 None 0.958 2 0 2003 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 2003 2003
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0009421
Disease: Comatose
Comatose
phenotype 0.400 strong 1.000 1 0 2009 2009
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 0 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy
disease 0.320 strong 1.000 1 0 2003 2004
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group 0.310 strong 1.000 1 0 2009 2018
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
disease 0.310 strong 1.000 1 0 2007 2018
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine
disease 0.310 strong 1.000 1 0 2003 2008
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
group 0.300 strong 1.000 1 0 2009 2009