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: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis 		disease Disease or Syndrome 8 0.030 None 0.667 3 2017 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2018 2018
CUI: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology 		disease Disease or Syndrome 29 0.010 None < 0.001 1 2002 2002
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2020 2020
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 43 0.010 None 1.000 1 2018 2018
CUI: C1960443
Disease: Vasculitic neuropathy
Vasculitic neuropathy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 3 2018 2018
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0521173
Disease: Granulomatosis
Granulomatosis 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		phenotype Finding 7 0.100 None 0
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 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: 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: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.200 None 0.907 54 1994 2019
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: C1318520
Disease: Necrotizing vasculitis
Necrotizing vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 4 0.040 None 1.000 4 2001 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2017 2019