DisGeNET - a database of gene-disease associations

CACNA2D4, calcium voltage-gated channel auxiliary subunit alpha2delta 4, 93589

N. diseases: 33; N. variants: 3

Disease: RETINAL CONE DYSTROPHY 4 ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1864849
Disease:	RETINAL CONE DYSTROPHY 4

RETINAL CONE DYSTROPHY 4

0.600

Biomarker

disease

GENOMICS_ENGLAND

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

26560832

2016

CUI:	C1864849
Disease:	RETINAL CONE DYSTROPHY 4

RETINAL CONE DYSTROPHY 4

0.600

Biomarker

disease

CTD_human

CUI:	C1864849
Disease:	RETINAL CONE DYSTROPHY 4

RETINAL CONE DYSTROPHY 4

0.600

CausalMutation

disease

CLINVAR

CUI:	C1864849
Disease:	RETINAL CONE DYSTROPHY 4

RETINAL CONE DYSTROPHY 4

0.600

Biomarker

disease

GENOMICS_ENGLAND