Source: INFERRED

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: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0878565
Disease: Electrocardiogram J wave
Electrocardiogram J wave 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype 0.100 None 0 2
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0428977
Disease: Bradycardia
Bradycardia 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0239815
Disease: Hand clenching
Hand clenching 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C4018858
Disease: J wave
J wave 		phenotype 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		phenotype 0.100 None 0 1