ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
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: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.010 None 1.000 1 1993 1993
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 1994 1994
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None 1.000 1 1994 1994
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 0.010 None 1.000 1 1994 1994
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Pathologic Function 5 0.200 None 1.000 1 1995 1995
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		phenotype Pathologic Function 5 0.200 None 1.000 1 1995 1995
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 0.944 18 1997 2019
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.010 None 1.000 1 1997 1997
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.010 None 1.000 1 1997 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.050 None 1.000 5 1998 2017
CUI: C1274789
Disease: Ligneous conjunctivitis
Ligneous conjunctivitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1998 1998
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 13 0.010 None 1.000 1 1998 1998
CUI: C0333355
Disease: Inflammatory disease of mucous membrane
Inflammatory disease of mucous membrane 		group Digestive System Diseases; Stomatognathic Diseases Pathologic Function 18 0.200 None 1.000 1 1998 1998
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 60 2 0.200 None 1.000 1 1998 1998
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.800 strong 1.000 32 13 1999 2019
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 26 0.700 strong 1.000 21 25 1999 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 1999 2020
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 68 11 0.500 strong 0.987 78 3 2000 2020
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 66 26 0.100 None 0.987 77 3 2000 2020
CUI: C3665444
Disease: Neutrophilia (disorder)
Neutrophilia (disorder) 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 150 1 0.030 None 1.000 3 2000 2019
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.030 None 1.000 3 2000 2020
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.130 None 1.000 3 2000 2020
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.010 None < 0.001 1 2000 2000
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 58 0.010 None 1.000 1 2000 2000
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans 		disease Respiratory Tract Diseases Disease or Syndrome 93 5 0.010 None 1.000 1 2000 2000