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: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.140 None 1.000 4 2011 2019
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2008 2008
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		phenotype Stomatognathic Diseases Finding 25 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: C0011633
Disease: Dermatomyositis
Dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.010 None 1.000 1 2019 2019
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 2019 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 1 2014 2014
CUI: C0035435
Disease: Rheumatism
Rheumatism 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 197 19 0.010 None 1.000 1 2018 2018
CUI: C1333177
Disease: Lymphoproliferative Disorder of the Skin
Lymphoproliferative Disorder of the Skin 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 75 4 0.010 None 1.000 1 2010 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.020 None 1.000 2 2008 2008
CUI: C0011608
Disease: Dermatitis Herpetiformis
Dermatitis Herpetiformis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 43 0.010 None 1.000 1 2017 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.020 None 1.000 2 2015 2017
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.010 None 1.000 1 2018 2018
CUI: C0023646
Disease: Lichen Planus
Lichen Planus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2019 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2019 2019
CUI: C4049241
Disease: Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
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: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None 1.000 1 1994 1994
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.040 None 1.000 4 2004 2019
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.010 None 1.000 1 2016 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.010 None 1.000 1 2018 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.100 None 1.000 25 1981 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.100 None 0.944 18 1997 2019