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: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. 21594995 2011
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene. 18266931 2008
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. 23950017 2013
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. 12972605 2003
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565 2015
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Multiple roles for Puralpha in cellular and viral regulation. 19182532 2009
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: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. 17698009 2007
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 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: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
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: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Dendritic location of neural BC1 RNA. 1706516 1991
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4021217
Disease:
EEG with generalized slow activity 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4023683
Disease:
EEG with spike-wave complexes 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0014877
Disease:
Esotropia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1867873
Disease:
Failure to thrive in infancy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0232466
Disease:
Feeding difficulties 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0016202
Disease:
Flatfoot 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1836308
Disease:
Generalized joint laxity 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587782993
rs587782993
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 CausalMutation CLINVAR