DisGeNET - a database of gene-disease associations

Classical Lissencephaly, C0431375

Variant: rs121434482 ×

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:

rs121434482

PAFAH1B1

0.800

GeneticVariation

UNIPROT

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

15173193

2004

dbSNP:

rs121434482

PAFAH1B1

0.800

GeneticVariation

UNIPROT

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.

15007136

2004

dbSNP:

rs121434482

PAFAH1B1

0.800

GeneticVariation

UNIPROT

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

11502906

2001

dbSNP:

rs121434482

PAFAH1B1

0.800

GeneticVariation

UNIPROT

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.

11163258

2000

dbSNP:

rs121434482

PAFAH1B1

0.800

GeneticVariation

UNIPROT

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

9063735

1997

dbSNP:

rs121434482

PAFAH1B1

0.800

CausalMutation

CLINVAR