Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease BEFREE Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation. 26365003 2016
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63. 24506938 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GermlineCausalMutation disease ORPHANET Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. 24886261 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Together, our analyses of sec63 mutant zebrafish highlight the possible role of ER stress in polycystic liver disease and suggest that these mutants will serve as a model for understanding the pathophysiology of this disease and other abnormalities involving ER stress. 22864019 2013
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE In conclusion, as somatic second-hit mutations also play a role in cyst formation in patients with a SEC63 germline mutation, this appears to be a general mechanism of cyst formation in PCLD. 23209713 2012
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Thus, Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to PCLD. 21251912 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease CTD_human Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. 21685914 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients. 20408955 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Autosomal dominant polycystic liver disease (PCLD) is caused by mutations of either PRKCSH or Sec63, two proteins associated with the endoplasmic reticulum (ER). 19801576 2010
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease BEFREE Cystogenesis in SEC63-associated PCLD occurs via a different mechanism. 18224332 2008
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Interestingly, recent genetic work has linked mutations in the human and murine SIL1 genes to neurodegeneration, and mutations in the human SEC63 gene to autosomal dominant polycystic liver disease. 17071140 2006
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE In conclusion, both PRKCSH and SEC63 mutations are associated with polycystic liver disease. 16835903 2006
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease BEFREE Defects in genes, which code the hepatocystin and SEC63 proteins, have just recently been found to cause PCLD. 16338757 2005
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Mutations in SEC63 cause autosomal dominant polycystic liver disease. 15133510 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease HPO
CUI: C4310769
Disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in SEC63 cause autosomal dominant polycystic liver disease. 15133510 2004
CUI: C4310769
Disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in SEC63 cause autosomal dominant polycystic liver disease. 15133510 2004
CUI: C4310769
Disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS 		0.400 CausalMutation disease CLINVAR
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group BEFREE Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts. 30652979 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 GeneticVariation group BEFREE Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63. 24506938 2014
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group CTD_human A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. 21685914 2011
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		0.300 Biomarker disease CTD_human A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. 21685914 2011
CUI: C0267834
Disease: Liver cyst
Liver cyst 		0.140 GeneticVariation disease BEFREE Isolated liver cysts are caused by mutations in Protein Kinase C Substrate 80K-H (PRKCSH), SEC63, and LDL Receptor Related Protein 5 (LRP5), whereas Polycystic Kidney Disease (PKD)1, PKD2, and PKHD1 mutations cause kidney cysts often accompanied by liver cysts. 30652979 2019
CUI: C0267834
Disease: Liver cyst
Liver cyst 		0.140 Biomarker disease BEFREE Sec63 is a member of the endoplasmic reticulum (ER) translocon machinery, although it is unclear how mutations in SEC63 lead to liver cyst formation in humans. 22864019 2013
CUI: C0267834
Disease: Liver cyst
Liver cyst 		0.140 Biomarker disease BEFREE Our results show that (a) morpholinos against sec63, prkcsh, and pkd1a eliminate expression of the respective proteins; (b) phenotypic body changes included curved tail and the formation of hepatic cysts in zebrafish larvae; (c) exposure of embryos to pasireotide inhibited hepatic cystogenesis in the zebrafish models; and (d) exposure of embryos to 4-PBA resulted in the ER in cholangiocytes resolving from a curved to a smooth appearance. 23668934 2013