PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268417
Disease: Pancreatic trypsinogen deficiency
Pancreatic trypsinogen deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0400990
Disease: Cyst of biliary tract
Cyst of biliary tract 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C0266270
Disease: Pancreas divisum
Pancreas divisum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.120 None 1.000 2 2012 2019
CUI: C4048750
Disease: Sphincter of Oddi Dyskinesia
Sphincter of Oddi Dyskinesia 		disease Digestive System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		disease Disease or Syndrome 5 4 0.040 None 1.000 4 1 2000 2011
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2009 2009
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 6 6 0.370 None 1.000 8 5 1996 2017
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 1999 1999
CUI: C3686778
Disease: Biliary hyperplasia
Biliary hyperplasia 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		phenotype Finding 6 1 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		phenotype Finding 7 0.100 None 0
CUI: C0410533
Disease: Osteodysplasia
Osteodysplasia 		disease Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C0496836
Disease: Malignant tumor of eye
Malignant tumor of eye 		disease Neoplasms; Eye Diseases Neoplastic Process 11 0.010 None 1.000 1 2007 2007
CUI: C0030299
Disease: Pancreatic Pseudocyst
Pancreatic Pseudocyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 11 0.100 None 0
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 11 0.010 None 1.000 1 2010 2010
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype Finding 13 0.100 None 0
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 14 13 0.140 None 1.000 4 5 2001 2016
CUI: C0036651
Disease: Solar lentigo
Solar lentigo 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2007 2007
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 15 2 0.100 None 0
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 17 16 0.100 None 0.909 11 5 1999 2017
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.390 None 0.909 11 3 2001 2018
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 18 7 0.060 None 1.000 6 4 1997 2015