DisGeNET - a database of gene-disease associations

Lissencephaly 3, C1969029

Variant: rs587784483 ×

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:

rs587784483

TUBA1A

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs587784483

TUBA1A

0.800

CausalMutation

CLINVAR

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

20466733

2010

dbSNP:

rs587784483

TUBA1A

0.800

CausalMutation

CLINVAR

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

18728072

2008

dbSNP:

rs587784483

TUBA1A

0.800

GeneticVariation

UNIPROT

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

17584854

2007

dbSNP:

rs587784483

TUBA1A

0.800

GeneticVariation

CLINVAR