Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease UNIPROT Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. 27418539 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease UNIPROT TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GermlineCausalMutation disease ORPHANET TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 Biomarker disease CTD_human
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 CausalMutation disease CLINVAR
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 GeneticVariation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE De novo mutations in TRIO have lately been identified in patients with intellectual disability, suggesting that this protein family plays an important role in development and disease. 30844509 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE Routine clinical diagnostic testing identified an intragenic de novo deletion of TRIO in a boy with ID. 26721934 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group GENOMICS_ENGLAND
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group BEFREE Elevation of PDE4A5 and drug-based attenuation of PKA signaling rescue Trio haploinsufficiency-related dendritic spine defects, suggesting an avenue for therapeutic intervention for TRIO-related neurodevelopmental disorders. 30840899 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group BEFREE Using a targeted search, we identified an enrichment of de novo mutations in the gene encoding the 330-kDa triple functional domain (TRIO) protein associated with neurodevelopmental disorders. 28973398 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.320 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group CTD_human Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors. 19233941 2009
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.300 Biomarker group CTD_human Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors. 19233941 2009
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		0.300 Biomarker disease CTD_human Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors. 19233941 2009
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.300 Biomarker disease CTD_human Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors. 19233941 2009
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 GeneticVariation disease BEFREE TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker disease HPO
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins. 30498476 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. 28928363 2017