NME7, NME/NM23 family member 7, 29922

N. diseases: 28; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.110 Biomarker phenotype BEFREE The replication study confirmed a significant association of F5, NME7 and ABO with VTE. 22672568 2012
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.010 Biomarker disease BEFREE SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. 27060491 2016
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.010 Biomarker disease BEFREE SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. 27060491 2016
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.010 AlteredExpression disease BEFREE Regarding NME7, consistent with its expression in axonemal structures, NME7 (-/-) mice present lesions similar to primary ciliary dyskinesia. 21562815 2011
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.010 AlteredExpression disease BEFREE Regarding NME7, consistent with its expression in axonemal structures, NME7 (-/-) mice present lesions similar to primary ciliary dyskinesia. 21562815 2011
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 AlteredExpression disease BEFREE In summary, we show in a genetic model of metabolic syndrome that rat strains with the lowest expression of Nme7 present gene expression shifts of Nme7 interactome that are perturbing networks relevant for carbohydrate and lipid metabolism as well as ciliogenesis. 30484681 2018
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.200 Biomarker disease MGD In addition to having SI, Dpcd/Poll(-/-) mice (for: deleted in a mouse model of primary ciliary dyskinesia) and Nme7(-/-) mice (for: nonmetastatic cells 7) had lesions consistent with deficient ciliary motility: Hydrocephalus, sinusitis, and male infertility developed in Dpcd/Poll(-/-) mice, whereas hydrocephalus and excessive nasal exudates were seen in Nme7(-/-) mice. 20080492 2010
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. 29213071 2017
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.110 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. 30679814 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.110 GeneticVariation phenotype GWASDB Genetics of venous thrombosis: insights from a new genome wide association study. 21980494 2011