Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease CTD_human Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (∼4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples. 21499247 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CGI
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE To address this, we screened genes that have been previously reported to be associated with psychiatric diseases and found that TRRAP, a gene associated with schizophrenia, is involved in circadian rhythm regulation. 31538360 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophrenia and childhood disintegrative disorder. 30424743 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease CTD_human De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. 23042115 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease CTD_human Exome sequencing supports a de novo mutational paradigm for schizophrenia. 21822266 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease BEFREE Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 30827496 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group BEFREE Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 30827496 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		0.300 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		0.300 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.300 CausalMutation disease CGI