DisGeNET - a database of gene-disease associations

CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773

N. diseases: 320; N. variants: 106

Disease: Downbeat nystagmus ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0585544
Disease:	Downbeat nystagmus

Downbeat nystagmus

0.100

CausalMutation

phenotype

CLINVAR

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

2015

CUI:	C0585544
Disease:	Downbeat nystagmus

Downbeat nystagmus

0.100

Biomarker

phenotype

HPO