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: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease 0.170 None 1.000 0 0 1999 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype 0.400 None 1.000 0 0 2007 2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 0 2015 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		phenotype 0.100 None 1.000 0 0 2015 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.200 None 1.000 0 0 1997 2012
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		disease 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.110 None 1.000 0 0 2011 2011
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0