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: 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: 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