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:

rs376764423

rs376764423

MYO7A

0.925

0.200

11

77208472

stop gained

C/T

snv

1.2E-05

2.1E-05

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853376

rs878853376

MYO7A

11

77189468

stop gained

A/T

snv

4.0E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853378

rs878853378

MYO7A

1.000

0.200

11

77174796

stop gained

C/A

snv

4.1E-06

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700