CTRC, chymotrypsin C, 11330

N. diseases: 56; N. variants: 16
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: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 6 6 0.300 None 0
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		phenotype Finding 7 0.100 None 0
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		disease Digestive System Diseases Disease or Syndrome 14 13 0.100 None 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 0.100 None 0
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 51 12 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 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: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease Digestive System Diseases Disease or Syndrome 82 26 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1969419
Disease: PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 2
CUI: C3686778
Disease: Biliary hyperplasia
Biliary hyperplasia 		disease Disease or Syndrome 6 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 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: 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: C4048750
Disease: Sphincter of Oddi Dyskinesia
Sphincter of Oddi Dyskinesia 		disease Digestive System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		group Respiratory Tract Diseases Disease or Syndrome 227 14 0.100 None 0
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 0
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.100 None 0
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 0