DOCK7, dedicator of cytokinesis 7, 85440

N. diseases: 51; N. variants: 192
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 GermlineCausalMutation disease ORPHANET Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 Biomarker disease CTD_human
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 CausalMutation disease CLINVAR
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker disease MGD Misty (m) affects growth traits. 9688956 1998
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.200 Biomarker disease MGD The murine misty mutation: phenotypic effects on melanocytes, platelets and brown fat. 9475748 1998
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
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 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides 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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein 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 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
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
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018