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: C1858501
Disease: Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 12 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2002 2009
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 43 0.010 None 1.000 1 2019 2019
CUI: C0751366
Disease: Radiation-Induced Cancer
Radiation-Induced Cancer 		disease Neoplasms; Wounds and Injuries Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C3267126
Disease: Trichodysplasia spinulosa
Trichodysplasia spinulosa 		disease Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2018 2018
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 13 4 0.020 None 1.000 2 2003 2011
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2010 2010
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2010 2010
CUI: C1301797
Disease: Induced hypothermia (finding)
Induced hypothermia (finding) 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 21 0.010 None 1.000 1 2019 2019
CUI: C0375021
Disease: Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 38 0.010 None 1.000 1 2001 2001
CUI: C0017536
Disease: Giardiasis
Giardiasis 		disease Digestive System Diseases; Infections Disease or Syndrome 48 0.010 None 1.000 1 2018 2018
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 54 4 0.010 None 1.000 1 2016 2016
CUI: C0854924
Disease: Papillary serous endometrial carcinoma
Papillary serous endometrial carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 63 0.010 None 1.000 1 2011 2011
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.100 None 1.000 1 1 2018 2018
CUI: C0596321
Disease: Chemical Carcinogenesis
Chemical Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 71 2 0.010 None 1.000 1 2017 2017
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 79 24 0.020 None 1.000 2 2002 2003
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.020 None 1.000 2 2008 2008
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 8 0.020 None 1.000 2 2017 2017
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 9 0.010 None 1.000 1 2017 2017
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		disease Neoplasms Neoplastic Process 94 6 0.010 None 1.000 1 2016 2016
CUI: C0149939
Disease: Obstructive nephropathy
Obstructive nephropathy 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 95 0.010 None 1.000 1 2016 2016
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.010 None 1.000 1 2013 2013
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.010 None 1.000 1 2015 2015
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 2017 2017
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2019 2019