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: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C0007642
Disease: Cellulitis
Cellulitis
phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 38 1 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0035455
Disease: Rhinitis
Rhinitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.100 None 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
phenotype Finding 4 5 0.100 None 0 1
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE
phenotype Finding 68 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C3671688
Disease: Cyclic Hematopoesis
Cyclic Hematopoesis
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 27 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0427543
Disease: Increased blood monocyte number
Increased blood monocyte number
phenotype Laboratory or Test Result 8 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
disease Stomatognathic Diseases Disease or Syndrome 80 22 0.100 None 0
CUI: C0085702
Disease: Monocytosis
Monocytosis
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 61 3 0.100 None 0
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum
disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology
phenotype Finding 3 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection
phenotype Infections Finding 32 0.100 None 0
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.100 None 0