CUL3, cullin 3, 8452

N. diseases: 83; N. variants: 27
Disease: Hypertensive disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE Hypertension-causing cullin 3 mutations disrupt COP9 signalosome binding. 31813255 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE The renal effects of CNIs mimic the hypertension and hyperkalemia that result from germ-line mutations in with-no-lysine (WNK) kinases and the Kelch-like 3 (KLHL3)-CUL3 ubiquitin ligase complex. 30718414 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE CUL3 mutations cause severe vascular dysfunction, arterial stiffness and hypertension due to defects in vascular smooth muscle. 31184598 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE Mutations in the with-no-lysine kinase 1 (WNK1), WNK4, Kelch-like 3 (KLHL3), and Cullin3 (CUL3) genes were identified as being responsible for hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII). 28414128 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE These data indicate that selective expression of the <i>Cul3</i>Δ<i>9</i> mutation in vascular smooth muscle phenocopies the hypertension observed in <i>Cul3</i>Δ<i>9</i> human subjects and suggest that mutations in CUL3 cause human hypertension in part through a mechanism involving smooth muscle dysfunction initiated by a loss of CUL3-mediated degradation of RhoA. 27882355 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE It has been shown previously that mutations in Cullin3 (Cul3) causing deletion of 57 amino acids encoded by exon 9 (Cul3Δ9) cause hypertension. 26100637 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE We here discuss a novel pathogenic mechanism underlying the hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII), caused by mutations in three different genes encoding for Cullin-3, Kelch-like protein 3 (KLHL3), and with-no-lysine kinases (WNKs). 24992566 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 Biomarker group BEFREE Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3. 25250572 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE Recent studies have identified Gordon's hypertension syndrome patients with mutations in either CUL3 (Cullin-3) or the BTB protein KLHL3 (Kelch-like 3). 23387299 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE Mutations in KLHL3 have been identified in patients with inherited hypertension disorders, and several of the disease-associated mutations are located in the presumed Cul3 binding region. 23573258 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 GeneticVariation group BEFREE Since chronic acidosis and hypertension associated with PHA-II can result in delayed growth and development in pediatric patients, genetic analysis to detect the CUL3 mutation and to enable intervention early in the disease course would be beneficial for infants with suspected PHA-II. 23689903 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 Biomarker group BEFREE Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 22266938 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 Biomarker group HPO