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: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia 		disease Neoplastic Process 5 0.010 None 1.000 1 2002 2002
CUI: C4324721
Disease: Radiologically isolated syndrome
Radiologically isolated syndrome 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None < 0.001 1 2017 2017
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		disease Finding 10 3 0.300 None 0
CUI: C0936215
Disease: Vitamin B 6 Deficiency
Vitamin B 6 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0206178
Disease: Cytomegalovirus Retinitis
Cytomegalovirus Retinitis 		disease Infections; Eye Diseases Disease or Syndrome 13 3 0.020 None 1.000 2 2017 2019
CUI: C0278726
Disease: Small cell lung cancer extensive stage
Small cell lung cancer extensive stage 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2018 2018
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C1368911
Disease: Papillary urothelial carcinoma
Papillary urothelial carcinoma 		disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0334267
Disease: Transitional cell carcinoma in situ
Transitional cell carcinoma in situ 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C1266157
Disease: Intratubular malignant germ cells
Intratubular malignant germ cells 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2008 2008
CUI: C0035333
Disease: Retinitis
Retinitis 		disease Eye Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2018 2018
CUI: C1112157
Disease: Intrauterine infection
Intrauterine infection 		disease Disease or Syndrome 30 1 0.010 None 1.000 1 2005 2005
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections 		group Infections Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C0013884
Disease: Filarial Elephantiases
Filarial Elephantiases 		disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 38 10 0.010 None 1.000 1 2005 2005
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.010 None 1.000 1 2017 2017
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 47 1 0.010 None 1.000 1 2001 2001
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.010 None 1.000 1 1994 1994
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.050 None 1.000 5 2009 2019
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2011 2011
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2011 2011
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.010 None 1.000 1 2014 2014
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 67 6 0.010 None 1.000 1 2005 2005
CUI: C0023364
Disease: Leptospirosis
Leptospirosis 		disease Infections Disease or Syndrome 70 2 0.010 None 1.000 1 2014 2014
CUI: C0242172
Disease: Pelvic Inflammatory Disease
Pelvic Inflammatory Disease 		group Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 74 3 0.010 None 1.000 1 2018 2018