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: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		disease Disease or Syndrome 5 4 0.040 None 1.000 4 1 2000 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None < 0.001 2 1 2001 2017
CUI: C0410533
Disease: Osteodysplasia
Osteodysplasia 		disease Congenital Abnormality 8 0.010 None 1.000 1 1999 1999
CUI: C0522070
Disease: Pancreatic symptom
Pancreatic symptom 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2009 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		phenotype Finding 7 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C3686778
Disease: Biliary hyperplasia
Biliary hyperplasia 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype Finding 13 0.100 None 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		phenotype Finding 28 2 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: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 15 2 0.100 None 0
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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2013 2013
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.100 None 0
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: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.040 None 1.000 4 2013 2017
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.240 None 1.000 5 1996 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.020 None 1.000 2 1999 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 1 2018 2018
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.020 None 1.000 2 2004 2014