DisGeNET - a database of gene-disease associations

PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587782994

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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:

rs587782994

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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

25439098

2014

dbSNP:

rs587782995

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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:

rs587782995

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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

25439098

2014

dbSNP:

rs587783001

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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:

rs587783001

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

UNIPROT

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

25439098

2014

dbSNP:

rs587782998

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

UNIPROT

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:

rs587782998

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

UNIPROT

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

25439098

2014

dbSNP:

rs587782999

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

UNIPROT

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

25439098

2014

dbSNP:

rs587782999

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

UNIPROT

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:

rs587782992

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

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

25439098

2014

dbSNP:

rs1554129069

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

ACG

0.700

CausalMutation

CLINVAR

dbSNP:

rs587782995

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

CLINVAR

dbSNP:

rs587782995

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs587783001

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

GeneticVariation

CLINVAR

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

25439098

2014

dbSNP:

rs587783001

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554129118

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

dbSNP:

rs1561793336

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561793344

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

dbSNP:

rs587782991

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

dbSNP:

rs786204833

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

dbSNP:

rs793888527

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

dbSNP:

rs587782994

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554129100

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786204835

Entrez Id:	5813
Gene Symbol:	PURA

PURA

CUI:	C4015357
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

0.700

CausalMutation

CLINVAR

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

27148565

2015