DisGeNET - a database of gene-disease associations

rs786205665, DRAM2

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

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Retinal dystrophy with early macular involvement

CUI:	C4049066
Disease:	Retinal dystrophy with early macular involvement

7

1.000

0.040

1

111131424

missense variant

C/T

snv

7.0E-06

0.800

Retinal Dystrophies

CUI:	C0854723
Disease:	Retinal Dystrophies

227

1.000

0.040

1

111131424

missense variant

C/T

snv

7.0E-06

0.700