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: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2018 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2012 2012
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder
disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2017 2017
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2017 2017
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 56 13 0.010 None 1.000 1 2017 2017
CUI: C0150055
Disease: Chronic pain
Chronic pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 19 0.010 None 1.000 1 2017 2017
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2006 2006
CUI: C0085655
Disease: Polymyositis
Polymyositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2019 2019
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis
disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 73 15 0.010 None 1.000 1 2018 2018
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2019 2019
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2007 2007
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 2009 2009
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2017 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 1994 1994
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2017 2017
CUI: C4552766
Disease: Miscarriage
Miscarriage
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.010 None 1.000 1 2018 2018
CUI: C2931027
Disease: Neutropenia, severe chronic
Neutropenia, severe chronic
disease Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.010 None 1.000 1 2018 2018
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.010 None 1.000 1 2017 2017
CUI: C2747816
Disease: Complicated malaria
Complicated malaria
disease Infections Disease or Syndrome 166 38 0.010 None 1.000 1 2012 2012
CUI: C2732890
Disease: Necrotizing soft tissue infection
Necrotizing soft tissue infection
disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
Steroid Sulfatase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2019 2019
CUI: C2363774
Disease: Neutrophilic asthma
Neutrophilic asthma
disease Disease or Syndrome 40 2 0.010 None 1.000 1 2011 2011
CUI: C2350236
Disease: Idiopathic Interstitial Pneumonias
Idiopathic Interstitial Pneumonias
disease Respiratory Tract Diseases Disease or Syndrome 64 4 0.010 None 1.000 1 2017 2017