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: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2008 2008
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 55 0.010 None 1.000 1 2008 2008
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 1 0.030 None 1.000 3 2002 2011
CUI: C0221244
Disease: Seborrheic dermatitis of scalp
Seborrheic dermatitis of scalp 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C0423775
Disease: Scurfiness of scalp
Scurfiness of scalp 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 13 0.020 None 1.000 2 2011 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2012 2012
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 2012 2012
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.010 None 1.000 1 2013 2013
CUI: C0276653
Disease: Invasive Pulmonary Aspergillosis
Invasive Pulmonary Aspergillosis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 42 3 0.010 None 1.000 1 2013 2013
CUI: C0238013
Disease: Invasive aspergillosis
Invasive aspergillosis 		disease Infections Disease or Syndrome 59 13 0.010 None 1.000 1 2014 2014
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		disease Infections Disease or Syndrome 197 22 0.010 None 1.000 1 2015 2015
CUI: C0023980
Disease: Longevity
Longevity 		phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2015 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2016 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2016 2016
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		disease Infections Disease or Syndrome 167 1 0.030 None 1.000 3 2003 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2012 2017
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 18 0.010 None 1.000 1 2017 2017
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 32 233 0.010 None 1.000 1 2017 2017
CUI: C0300934
Disease: Primary Amebic Meningoencephalitis
Primary Amebic Meningoencephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis 		disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2017 2017
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2017 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C0009186
Disease: Coccidioidomycosis
Coccidioidomycosis 		disease Infections Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 29 16 0.010 None 1.000 1 2017 2017