DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, C1970200

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:

rs387906943

rs387906943

ST3GAL3

1

1.000

0.160

1

43736300

missense variant

C/A

snv

0.800

1.000

2011

2011

dbSNP:

rs1557612719

rs1557612719

ST3GAL3

1

1.000

0.160

1

43930201

stop lost

G/T

snv

0.700