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: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function
phenotype Cell or Molecular Dysfunction 1 9 0.100 None 1.000 20 9 2007 2018
Neutropenia and hyperlymphocytosis with large granular lymphocytes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2016 2018
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.500 None 1.000 2 2007 2007
CUI: C0338562
Disease: Sciatic nerve compression
Sciatic nerve compression
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0747667
Disease: Recurrent bacterial pneumonia
Recurrent bacterial pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0877048
Disease: Oral fungal infection
Oral fungal infection
disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1268606
Disease: Localized candidiasis
Localized candidiasis
disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 14 0.630 strong 1.000 26 14 2007 2018
Carcinoma ex pleomorphic adenoma of lacrimal gland
disease Neoplastic Process 2 0.010 None 1.000 1 2016 2016
CUI: C0742186
Disease: Radiculopathy, Cervical
Radiculopathy, Cervical
disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C2242589
Disease: Coronaropathy
Coronaropathy
disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C4528699
Disease: Devil Facial Tumor Disease
Devil Facial Tumor Disease
disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0877208
Disease: Peripartum cardiomyopathy
Peripartum cardiomyopathy
phenotype Cardiovascular Diseases Pathologic Function 2 4 0.200 None 0
CUI: C0033771
Disease: Prurigo
Prurigo
disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1512259
Disease: Grade II Meningioma
Grade II Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2010 2010
Short Stature, Idiopathic, Autosomal
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 8 0.010 None 1.000 1 2018 2018
CUI: C2347750
Disease: Adult Grade II Meningioma
Adult Grade II Meningioma
disease Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C2347759
Disease: Childhood Grade II Meningioma
Childhood Grade II Meningioma
disease Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C4021157
Disease: Generalized abnormality of skin
Generalized abnormality of skin
disease Anatomical Abnormality 3 1 0.100 None 0
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 0.550 None 1.000 6 2011 2019
CUI: C0333160
Disease: Air cyst
Air cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 4 1 0.020 None 1.000 2 2011 2019
CUI: C0032308
Disease: Staphylococcal Pneumonia
Staphylococcal Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1336536
Disease: Supratentorial Glioblastoma
Supratentorial Glioblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C1735635
Disease: Progression of adenocarcinoma
Progression of adenocarcinoma
disease Neoplastic Process 4 0.010 None 1.000 1 2012 2012
CUI: C0264005
Disease: Eosinophilic Fasciitis
Eosinophilic Fasciitis
disease Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017