DisGeNET - a database of gene-disease associations

Timothy syndrome, C1832916

Variant: rs786205745 ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786205745

rs786205745

CACNA1C

C

0.730

CausalMutation

CLINVAR

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

2004

dbSNP:

rs786205745

rs786205745

CACNA1C

A

0.730

CausalMutation

CLINVAR