DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, X-LINKED 72, C1846038

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:

rs1557314191

rs1557314191

RAB39B

1

1.000

0.080

X

155260886

stop gained

C/A

snv

0.700

dbSNP:

rs267606995

rs267606995

RAB39B

1

1.000

0.080

X

155264268

stop gained

G/T

snv

0.700

dbSNP:

rs587776734

rs587776734

RAB39B

1

1.000

0.080

X

155264073

splice donor variant

C/T

snv

0.700