PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 ×
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: 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: rs1561793219
rs1561793219
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GGCGCAGGACGAGCC 0.700 GeneticVariation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565 2015
dbSNP: rs786204835
rs786204835
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		G 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565 2015
dbSNP: rs1554129091
rs1554129091
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs1561792945
rs1561792945
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs1561793115
rs1561793115
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs1561793219
rs1561793219
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GGCGCAGGACGAGCC 0.700 GeneticVariation 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: rs1561793268
rs1561793268
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GCGGC 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs1561793268
rs1561793268
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GCGGC 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: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		A 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs587782998
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
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
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
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