Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE Our data provides further support for PPP2R5D as a genetic cause of ID. 26576547 2016
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation phenotype CLINVAR
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		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
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 CausalMutation disease CLINVAR Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378 2015
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 GermlineCausalMutation disease ORPHANET B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 GeneticVariation disease CLINVAR
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 GeneticVariation disease UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 Biomarker disease CTD_human
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 CausalMutation disease CLINVAR B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 GeneticVariation disease UNIPROT B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378 2015
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. 26576547 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit. 20017541 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker phenotype HPO