DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE, C4538788

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:

rs1569261319

rs1569261319

CNKSR2

1

1.000

X

21591098

stop gained

G/A

snv

0.700

dbSNP:

rs606231282

rs606231282

CNKSR2

1

1.000

X

21440714

frameshift variant

-/A

delins

0.700

dbSNP:

rs904072058

rs904072058

CNKSR2

1

1.000

X

21606868

stop gained

C/A;T

snv

0.700