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: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.500 None 1.000 21 3 2002 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.100 None 1.000 16 1 2003 2019
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 25 0.930 None 0.857 7 25 2002 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.030 None 1.000 3 2013 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2005 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.030 None 1.000 3 2013 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.030 None 1.000 3 2013 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2003 2017
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 9 30 0.320 None 1.000 2 2004 2007
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.200 None 1.000 2 2009 2016
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 16 0.020 None 1.000 2 2007 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2013 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.020 None 1.000 2 2005 2005
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2013 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None < 0.001 1 2004 2004
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.110 None < 0.001 1 2011 2011
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2003 2003
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2007 2007
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 16 0.010 None 1.000 1 2007 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.110 None 1.000 1 1 2013 2013
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2013 2013
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.110 None 1.000 1 2005 2005
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2002 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2005 2005
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2007 2007