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: C0264356
Disease: Childhood bronchiectasis
Childhood bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C3671688
Disease: Cyclic Hematopoesis
Cyclic Hematopoesis
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0271407
Disease: Synchysis scintillans
Synchysis scintillans
disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
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: C0272175
Disease: Immune neutropenia
Immune neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C1698818
Disease: Photodamaged skin
Photodamaged skin
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
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
Hereditary cystatin C amyloid angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2002 2002
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology
phenotype Finding 3 0.100 None 0
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
Neutropenia, Severe Congenital, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 14 0.110 None 1.000 1 1 2009 2009
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: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
phenotype Finding 4 5 0.100 None 0 1
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
Suppurative Periapical Periodontitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 6 0.200 None 1.000 1 2009 2009
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
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: C4049279
Disease: Post stroke epilepsy
Post stroke epilepsy
disease Disease or Syndrome 7 2 0.010 None 1.000 1 2014 2014
CUI: C0340971
Disease: Autoimmune neutropenia
Autoimmune neutropenia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2013 2013
CUI: C0427543
Disease: Increased blood monocyte number
Increased blood monocyte number
phenotype Laboratory or Test Result 8 0.100 None 0
CUI: C0011251
Disease: Delusional disorder
Delusional disorder
group Mental Disorders Mental or Behavioral Dysfunction 9 1 0.010 None 1.000 1 2018 2018
Chronic disease of respiratory system
group Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 10 292 0.010 None 1.000 1 2019 2019