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: 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
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: 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: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.500 None 0.967 30 2001 2020
CUI: C3671688
Disease: Cyclic Hematopoesis
Cyclic Hematopoesis
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.220 None 1.000 3 2008 2015
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury
disease Respiratory Tract Diseases Injury or Poisoning 93 3 0.200 None 1.000 3 2004 2008
CUI: C0013604
Disease: Edema
Edema
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.200 None 1.000 1 2010 2010
CUI: C0029607
Disease: Other emphysema
Other emphysema
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 20 0.200 None 1.000 1 2002 2002
Other specified forms of pleural effusion, except tuberculous
disease Infections; Respiratory Tract Diseases Disease or Syndrome 15 0.200 None 1.000 1 2010 2010
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage
phenotype Pathologic Function 5 0.200 None 1.000 1 1995 1995
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.200 None 1.000 1 2002 2002
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2009 2009
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: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 1 2000 2000
Suppurative Periapical Periodontitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 6 0.200 None 1.000 1 2009 2009
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: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 61 0.200 None 1.000 1 2008 2008
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.190 None 1.000 9 2004 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.170 None 1.000 7 3 2002 2018
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.140 None 1.000 4 2011 2019
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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.120 None 1.000 2 2004 2006
CUI: C0017574
Disease: Gingivitis
Gingivitis
disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.120 None 1.000 2 2017 2019