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 		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: rs1554129008
rs1554129008
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129045
rs1554129045
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554129069
rs1554129069
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		ACG 0.700 CausalMutation CLINVAR
dbSNP: rs1554129096
rs1554129096
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129100
rs1554129100
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129114
rs1554129114
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1554129118
rs1554129118
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1561793211
rs1561793211
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1561793336
rs1561793336
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1561793344
rs1561793344
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587782993
rs587782993
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204833
rs786204833
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786204834
rs786204834
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR
dbSNP: rs793888527
rs793888527
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		C 0.700 CausalMutation CLINVAR
dbSNP: rs793888533
rs793888533
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886039899
rs886039899
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		T 0.700 GeneticVariation CLINVAR
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: 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: 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: 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