DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, C3281202

Variant: rs387906740 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906740

DYNC1H1

0.800

GeneticVariation

UNIPROT

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

28193117

2017

dbSNP:

rs387906740

DYNC1H1

0.800

GeneticVariation

UNIPROT

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

23603762

2013

dbSNP:

rs387906740

DYNC1H1

0.800

GeneticVariation

UNIPROT

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

22368300

2012

dbSNP:

rs387906740

DYNC1H1

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs387906740

DYNC1H1

0.800

GeneticVariation

UNIPROT

A de novo paradigm for mental retardation.

21076407

2010

dbSNP:

rs387906740

DYNC1H1

0.800

CausalMutation

CLINVAR