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: C0544786
Disease: wegener's granuloma
wegener's granuloma 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.020 None 1.000 2 2008 2008
CUI: C2895166
Disease: Wegener's granulomatosis with renal involvement
Wegener's granulomatosis with renal involvement 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0919818
Disease: Anti-neutrophil cytoplasmic antibody positive vasculitis
Anti-neutrophil cytoplasmic antibody positive vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1318520
Disease: Necrotizing vasculitis
Necrotizing vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 4 0.040 None 1.000 4 2001 2018
CUI: C1328843
Disease: Autoimmune vasculitis
Autoimmune vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.030 None 1.000 3 1994 2019
CUI: C0039520
Disease: Tenosynovitis
Tenosynovitis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		phenotype Finding 7 0.100 None 0
CUI: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis 		disease Disease or Syndrome 8 0.030 None 0.667 3 2017 2018
CUI: C0013447
Disease: Ear Diseases
Ear Diseases 		group Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2018 2018
CUI: C0006285
Disease: Bronchopneumonia
Bronchopneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C2609059
Disease: Antisynthetase syndrome
Antisynthetase syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
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: C0409652
Disease: Seronegative rheumatoid arthritis
Seronegative rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2020 2020
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: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		disease Anatomical Abnormality 12 0.100 None 0
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: C1960443
Disease: Vasculitic neuropathy
Vasculitic neuropathy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0521173
Disease: Granulomatosis
Granulomatosis 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections 		group Infections Disease or Syndrome 16 1 0.010 None 1.000 1 1998 1998
CUI: C4528210
Disease: Breast implant-associated anaplastic large cell lymphoma
Breast implant-associated anaplastic large cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 0.010 None 1.000 1 2018 2018
CUI: C0240094
Disease: Joint tenderness
Joint tenderness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 19 2 0.010 None 1.000 1 2019 2019
CUI: C0334660
Disease: Angioendotheliomatosis
Angioendotheliomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2019 2019
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0018188
Disease: Granuloma
Granuloma 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function 24 0.010 None 1.000 1 2006 2006