DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Variant: rs767889331 ×

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:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

27095636

2016

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

25105227

2014

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

24013853

2014

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

The laminin family.

23263632

2013

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Update on activities at the Universal Protein Resource (UniProt) in 2013.

23161681

2013

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21937992

2011

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

20048158

2010

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

The NCBI BioSystems database.

19854944

2010

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Crystal structure of the LG1-3 region of the laminin alpha2 chain.

19553699

2009

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

15102706

2004

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

10607917

1999

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

9151674

1997

dbSNP:

rs767889331

LAMA1

0.700

CausalMutation

CLINVAR

Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

2591971

1989

dbSNP: