DisGeNET - a database of gene-disease associations

CACNA1C, calcium voltage-gated channel subunit alpha1 C, 775

N. diseases: 225; N. variants: 90

Disease: Muscular hypotonia of the trunk ×

Source: ALL

Results per page

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

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

phenotype

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

Finding

156

25

0.100

None

0

1