PRTN3, proteinase 3, 5657

N. diseases: 215; N. variants: 3
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: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.070 None 0.857 7 2010 2020
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2018 2018
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 12 0.100 None 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease Anatomical Abnormality 70 0.100 None 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2020 2020
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.100 None 0
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.600 None 0.988 83 1992 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.200 None 0.907 54 1994 2019
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15 0.100 None 0.974 39 1992 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.947 38 1999 2020
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3 0.100 None 0.938 32 1996 2019
CUI: C2347126
Disease: Microscopic Polyarteritis
Microscopic Polyarteritis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 77 7 0.100 None 1.000 20 2002 2020
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0.800 10 2016 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.090 None 1.000 9 2005 2018
CUI: C0008728
Disease: Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis 		disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 38 3 0.070 None 1.000 7 2002 2017
CUI: C4023113
Disease: Small vessel vasculitis
Small vessel vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 13 0.070 None 1.000 7 2004 2018
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.050 None 1.000 5 2010 2019
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.050 None 1.000 5 2016 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.050 None 1.000 5 2018 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.040 None 1.000 4 1999 2018
CUI: C1318520
Disease: Necrotizing vasculitis
Necrotizing vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 4 0.040 None 1.000 4 2001 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.030 None 1.000 3 1999 2018
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 0.030 None 1.000 3 1998 2011