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: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.030 None 1.000 3 2002 2004
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None 1.000 1 2014 2014
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: C0409651
Disease: Seropositive rheumatoid arthritis
Seropositive rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 1 0.020 None 1.000 2 2019 2020
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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 2004 2004
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.030 None 0.667 3 2010 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.020 None 1.000 2 2018 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2018 2018
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.010 None 1.000 1 2019 2019
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0018621
Disease: Hay fever
Hay fever 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 114 42 0.010 None 1.000 1 2017 2017
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: 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: 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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.130 None 1.000 3 2015 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.020 None 1.000 2 1993 2015
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.010 None 1.000 1 2020 2020
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2009 2009
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.110 None 1.000 1 2018 2018
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		disease Respiratory Tract Diseases Disease or Syndrome 66 9 0.010 None < 0.001 1 1996 1996
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.010 None 1.000 1 2017 2017
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0