Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.010 AlteredExpression group BEFREE Our results reveal a gene dosage dependent role for NLG1 in the regulation of LTD and suggest that moderate changes in NLG1 protein level may be sufficient to cause synaptic and behavior deficits in brain disorders where copy number variants and hemizygosity of gene mutations are common. 30266599 2018
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
0.010 AlteredExpression phenotype BEFREE We find that Kirrel2 expression is dispensable for early axonal guidance events, such as fasciculation of the vomeronasal tract and segregation of apical and basal VSN axons into the anterior and posterior regions of the AOB, but is necessary for glomeruli formation. 28815295 2018
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.010 GeneticVariation disease BEFREE A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. 28334007 2017
CUI: C3889050
Disease: Prolonged epileptic seizure
Prolonged epileptic seizure
0.010 AlteredExpression disease BEFREE Secretion of soluble NLG1 was significantly upregulated under a prolonged epileptic seizure condition, and inhibition of NLG1 shedding led to an increase in numbers of dendritic spines in neuronal cultures. 23083742 2012