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.
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2003 2003
Anti-Glomerular Basement Membrane Disease
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 32 3 0.020 None 1.000 2 2012 2017
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 33 15 0.010 None 1.000 1 2008 2008
Eosinophilic granulomatosis with polyangiitis
disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 38 3 0.010 None 1.000 1 2007 2007
CUI: C0349637
Disease: Common acute lymphoblastic leukemia
Common acute lymphoblastic leukemia
disease Neoplastic Process 43 0.010 None 1.000 1 1989 1989
CUI: C0458219
Disease: Complex Regional Pain Syndromes
Complex Regional Pain Syndromes
disease Nervous System Diseases Disease or Syndrome 47 0.010 None < 0.001 1 2010 2010
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.020 None 1.000 2 2010 2019
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.010 None 1.000 1 2010 2010
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2011 2011
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.010 None 1.000 1 2004 2004
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2007 2007
Idiopathic crescentic glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 80 0.020 None 1.000 2 2012 2018
CUI: C0036205
Disease: Sarcoidosis, Pulmonary
Sarcoidosis, Pulmonary
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 1 0.010 None 1.000 1 2005 2005
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2014 2014
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
disease Male Urogenital Diseases Disease or Syndrome 91 22 0.010 None 1.000 1 2014 2014
Aspirin exacerbated respiratory disease
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.010 None < 0.001 1 1 2012 2012
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 96 17 0.010 None 1.000 1 2004 2004
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.010 None 1.000 1 2011 2011
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2011 2011
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2011 2011
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell
disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2011 2011
CUI: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms
group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 131 1 0.010 None 1.000 1 2007 2007
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2011 2011
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2011 2011
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma
disease Neoplasms Neoplastic Process 136 5 0.010 None 1.000 1 2010 2010