PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782994
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
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
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
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
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
rs587783001
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.800 GeneticVariation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs587783001
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: rs587782994
rs587782994
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587783001
rs587783001
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1561793219
rs1561793219
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GGCGCAGGACGAGCC 0.700 GeneticVariation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs793888527
rs793888527
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018