DisGeNET - a database of gene-disease associations

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

Cherry red spot of the macula

CUI:	C2216370
Disease:	Cherry red spot of the macula

0.700

CausalMutation

CLINVAR

Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

2014