rs1555968941, CACNA1C

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
0.700 GeneticVariation CLINVAR
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR
Thin lips
CUI: C0578038
Disease: Thin lips
0.700 GeneticVariation CLINVAR
Drooling
CUI: C0013132
Disease: Drooling
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Malocclusion
CUI: C0024636
Disease: Malocclusion
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
EEG with photoparoxysmal response
CUI: C3552821
Disease: EEG with photoparoxysmal response
0.700 GeneticVariation CLINVAR
Hyporeflexia of upper limbs
CUI: C1836835
Disease: Hyporeflexia of upper limbs
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Hand clenching
CUI: C0239815
Disease: Hand clenching
0.700 GeneticVariation CLINVAR
Slowed horizontal saccades
CUI: C1856477
Disease: Slowed horizontal saccades
0.700 GeneticVariation CLINVAR
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
0.700 GeneticVariation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 GeneticVariation CLINVAR
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
0.700 GeneticVariation CLINVAR
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 GeneticVariation CLINVAR
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
0.700 GeneticVariation CLINVAR
No social interaction
CUI: C1849683
Disease: No social interaction
0.700 GeneticVariation CLINVAR
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
0.700 GeneticVariation CLINVAR
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
0.700 GeneticVariation CLINVAR
Photophobia
CUI: C0085636
Disease: Photophobia
0.700 GeneticVariation CLINVAR
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.700 GeneticVariation CLINVAR
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
0.700 GeneticVariation CLINVAR
Hyporeflexia of lower limbs
CUI: C1834696
Disease: Hyporeflexia of lower limbs
0.700 GeneticVariation CLINVAR
Abnormality of dental enamel
CUI: C4021800
Disease: Abnormality of dental enamel
0.700 GeneticVariation CLINVAR