DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Variant: rs1554128999 ×

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:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Expanding the neurodevelopmental phenotype of PURA syndrome.

29150892

2018

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

29097605

2018

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Patient with a novel purine-rich element binding protein A mutation.

28164378

2017

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Premature Thelarche and the PURA Syndrome.

28486374

2017

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

26582469

2015

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

De novo mutations in PURA are associated with hypotonia and developmental delay.

27148565

2015

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

25342064

2014

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

25439098

2014

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

23950017

2013

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

22711443

2012

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

21594995

2011

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

The NCBI BioSystems database.

19854944

2010

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Multiple roles for Puralpha in cellular and viral regulation.

19182532

2009

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.

18266931

2008

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

17698009

2007

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.

12972605

2003

dbSNP:

rs1554128999

PURA

0.700

CausalMutation

CLINVAR

Dendritic location of neural BC1 RNA.

1706516

1991