EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 1.000 2 2003 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.020 None 1.000 2 2007 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.010 None 1.000 1 2017 2017
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.010 None 1.000 1 2019 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2017 2017
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.010 None 1.000 1 2017 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.320 strong 1.000 3 2008 2018
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 2018 2018
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
disease Respiratory Tract Diseases Disease or Syndrome 14 0.040 None 1.000 4 2014 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.030 None 1.000 3 2015 2019
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.320 strong 1.000 3 2008 2018
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.020 None 1.000 2 2015 2017
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness
phenotype Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2005 2005
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2015 2015
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
disease Respiratory Tract Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2012 2012
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.010 None 1.000 1 2013 2013
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.010 None 1.000 1 2017 2017
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2012 2012
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2017 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.964 28 1 2011 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.957 23 2010 2019
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.070 None 0.857 7 2014 2017
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2013 2013