DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs606231459, NDST1

N. diseases: 1

Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46

CUI:	C4015283
Disease:	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46

0.800

GeneticVariation

UNIPROT

NDST1 missense mutations in autosomal recessive intellectual disability.

25125150

2014

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46

CUI:	C4015283
Disease:	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46

0.800

CausalMutation

CLINVAR