DisGeNET - a database of gene-disease associations

rs61750174, GUCY2D

N. diseases: 3

Disease: Cone-Rod Dystrophy 2 ×

Source: ALL

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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

Cone-Rod Dystrophy 2

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

0.010

GeneticVariation

BEFREE

A heterozygous, triple mutation -E786D, R787C, T788M- in ROS-GC1 has been connected with autosomal cone-rod dystrophy in a British family.

2000