DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, C4015283

Variant: rs606231458 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs606231458

rs606231458

NDST1

0.800

GeneticVariation

UNIPROT

NDST1 missense mutations in autosomal recessive intellectual disability.

2014

dbSNP:

rs606231458

rs606231458

NDST1

C

0.800

CausalMutation

CLINVAR