DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, C4225388

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:

rs786203999

rs786203999

GPT2

2

1.000

16

46906858

missense variant

C/G

snv

0.800

1.000

2015

2015

dbSNP:

rs115352435

rs115352435

GPT2

1

1.000

16

46922414

stop gained

C/G;T

snv

2.0E-05; 3.7E-05

0.700