Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.110 | GeneticVariation | disease | BEFREE | Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features. | 26576547 | 2016 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. | 26576547 | 2016 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. | 25972378 | 2015 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. | 26168268 | 2015 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit. | 20017541 | 2010 | ||||
|
0.110 | GeneticVariation | disease | CLINVAR | The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm. | 8703017 | 1996 |