Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy. 31278393 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy. 31278393 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.300 Biomarker disease GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.300 Biomarker disease GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		0.300 Biomarker group CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Reveals Distinct Genetic Susceptibility of Thyroid Nodules From Thyroid Cancer. 30099483 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 GeneticVariation phenotype GWASCAT Identification of unique venous thromboembolism-susceptibility variants in African-Americans. 28203683 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.100 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.100 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.100 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016