DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs122456134, CACNA1F

N. diseases: 2

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Night blindness, congenital stationary

CUI:	C0339535
Disease:	Night blindness, congenital stationary

0.700

CausalMutation

CLINVAR

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

9662399

1998

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

CUI:	C1848172
Disease:	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A

0.700

CausalMutation

CLINVAR