DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinal Dystrophies ×

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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121909398

rs121909398

CERKL

0.827

0.080

2

181558617

stop gained

G/A;C

snv

3.5E-04; 4.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

2004

2004

dbSNP:

rs569826109

rs569826109

CERKL

1.000

0.080

2

181604002

missense variant

G/A;T

snv

5.2E-05; 5.2E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

2008

2008

dbSNP:

rs1553512879

rs1553512879

CERKL

2

181544799

splice region variant

G/C

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs201186440

rs201186440

CERKL

2

181656814

stop gained

C/A;T

snv

1.3E-04

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs750151209

rs750151209

CERKL

2

181548785

frameshift variant

AT/-

del

1.2E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700