Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0241210
Disease: Speech Delay
Speech Delay
0.100 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis
0.100 Biomarker phenotype HPO
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation group 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 AlteredExpression disease LHGDN Gonadotropin-releasing hormone retards doxorubicin-induced apoptosis and serine/threonine phosphatase inhibition in ovarian cancer cells. 15809743 2005
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
0.100 Biomarker phenotype HPO
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia
0.100 Biomarker disease HPO
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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.100 CausalMutation disease CLINVAR
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
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
0.700 GermlineCausalMutation disease ORPHANET B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
0.700 GeneticVariation disease CLINVAR