PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND