DisGeNET - a database of gene-disease associations

GRISCELLI SYNDROME, TYPE 1, C1859194

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs764371254

rs764371254

MYO5A

1

1.000

0.240

15

52376435

stop gained

G/A

snv

8.0E-06

7.0E-06

0.700

dbSNP:

rs769021352

rs769021352

MYO5A

1

1.000

0.240

15

52383090

splice donor variant

C/A;T

snv

4.0E-06

0.700