Source: HPO

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: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.120 None 0.500 0 0 2013 2016
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0233844
Disease: Clumsiness
Clumsiness 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0