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: rs793888527
rs793888527
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 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 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 Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		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: C0026650
Disease:
Movement Disorders 		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: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs793888527
rs793888527
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374 2017
dbSNP: rs793888527
rs793888527
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378 2017
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015
dbSNP: rs1554128999
rs1554128999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		G 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: C0026827
Disease:
Muscle hypotonia 		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 Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		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 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: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015
dbSNP: rs1554129113
rs1554129113
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015