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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 1999 2020
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.120 None 1.000 2 2004 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2009 2014
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.020 None 1.000 2 2010 2016
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2020 2020
CUI: C0271407
Disease: Synchysis scintillans
Synchysis scintillans 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2016 2016
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		phenotype Pathologic Function 5 0.200 None 1.000 1 1995 1995
CUI: C0860040
Disease: BCG infection
BCG infection 		disease Disease or Syndrome 37 0.010 None 1.000 1 2012 2012
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2017 2017
CUI: C1698818
Disease: Photodamaged skin
Photodamaged skin 		disease Disease or Syndrome 3 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: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		disease Disease or Syndrome 41 0.010 None 1.000 1 2003 2003
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.010 None 1.000 1 2018 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2019 2019
CUI: C4049279
Disease: Post stroke epilepsy
Post stroke epilepsy 		disease Disease or Syndrome 7 2 0.010 None 1.000 1 2014 2014
CUI: C4324563
Disease: Neutrophil extracellular trap formation
Neutrophil extracellular trap formation 		disease Disease or Syndrome 55 0.010 None 1.000 1 2019 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2019 2019
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		phenotype Finding 27 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 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: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		group Finding 11 1 0.100 None 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype Finding 4 5 0.100 None 0 1
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology 		phenotype Finding 3 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 0.100 None 0