EXOC5, exocyst complex component 5, 10640

N. diseases: 8; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149939
Disease: Obstructive nephropathy
Obstructive nephropathy
0.200 Biomarker disease MGD
Exudative age-related macular degeneration
0.100 GeneticVariation disease GWASCAT Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. 30054556 2018
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
0.100 GeneticVariation disease GWASCAT Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. 30054556 2018
CUI: C0010709
Disease: Cyst
Cyst
0.020 Biomarker disease BEFREE Adding hepatocyte growth factor to induce tubulogenesis, we observed that EXOC5-OE cell cysts form tubules more efficiently than control MDCK cell cysts, EXOC5CTS-m MDCK cell cysts form significantly fewer tubules than control cell cysts, and Exoc5-KD cysts did not undergo tubulogenesis. 30824539 2019
CUI: C0010709
Disease: Cyst
Cyst
0.020 Biomarker disease BEFREE In collagen culture MDCK cells form cysts, and H2O2 treatment damaged Sec10-overexpressing MDCK cell cysts less than control MDCK cell cysts. 20053792 2010
CUI: C0003460
Disease: Anuria
Anuria
0.010 AlteredExpression phenotype BEFREE Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6-14 hours after birth. 26046524 2015
CUI: C0521622
Disease: Bilateral hydronephrosis
Bilateral hydronephrosis
0.010 Biomarker disease BEFREE Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6-14 hours after birth. 26046524 2015
Polycystic Kidney, Autosomal Dominant
0.010 Biomarker disease BEFREE We show that knockdown of exocyst component Sec10 yields cellular phenotypes associated with ADPKD, including loss of flow-generated calcium increases, hyperproliferation, and abnormal activation of MAPK. 21490950 2011
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
0.010 Biomarker disease BEFREE The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes. 21490950 2011