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 HPO
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: C0267834
Disease: Liver cyst
Liver cyst 		0.140 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0004604
Disease: Back Pain
Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		0.100 Biomarker disease HPO
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		0.100 Biomarker phenotype HPO
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.100 CausalMutation disease CLINVAR
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		0.100 Biomarker disease HPO
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: 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: C0023895
Disease: Liver diseases
Liver diseases 		0.010 GeneticVariation group LHGDN Mutations in SEC63 cause autosomal dominant polycystic liver disease. 15133510 2004
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 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: C0267834
Disease: Liver cyst
Liver cyst 		0.140 GeneticVariation disease BEFREE Six patients (25%) with more than 20 liver cysts had mutations (4 PRKCSH and 2 SEC63), of which five mutations were chain-terminating. 16835903 2006
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: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE The p.S1087L mutation and p.R1090L, another adRP-associated allele, reside in the "ratchet" helix of the first of two Sec63 domains implicated in the directionality and processivity of nucleic acid unwinding. 19878916 2009