PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 CausalMutation disease CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565 2015
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565 2015
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 CausalMutation disease 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
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 25342064 2014
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease UNIPROT Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GermlineCausalMutation disease ORPHANET Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 25342064 2014
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease 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
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 CausalMutation disease CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 GeneticVariation disease 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
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		0.700 Biomarker disease CTD_human