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: rs1561793268
rs1561793268
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GCGGC 0.700 CausalMutation CLINVAR Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 25439098 2014
dbSNP: rs1561793268
rs1561793268
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 		GCGGC 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