Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. 26576547

2016
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378

2015
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268

2015
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation CLINVAR Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit. 20017541

2010
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
A 0.700 GeneticVariation 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