Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
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