CERT1, ceramide transporter 1, 10087

N. diseases: 71; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 GeneticVariation disease UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 CausalMutation disease CLINVAR
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.300 Biomarker disease CTD_human Prediction of sensitivity of advanced non-small cell lung cancers to gefitinib (Iressa, ZD1839). 15496427 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.130 Biomarker group BEFREE Dysregulation of the ceramide transport protein CERT is associated to diseases such as cancer. 31757669 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.130 Biomarker group BEFREE Here we demonstrate that cancer EMT phenotypes secrete GPBP (mesenchymal GPBP) which displays a predominant multimeric oligomerization and directs the formation of previously unrecognized mesh collagen IV networks (mesenchymal collagen IV). 29541394 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.130 GeneticVariation group GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.130 Biomarker group BEFREE CERT depletion predicts chemotherapy benefit and mediates cytotoxic and polyploid-specific cancer cell death through autophagy induction. 21953249 2012
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.100 GeneticVariation phenotype GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018