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: C1844777
Disease: CONE DYSTROPHY, X-LINKED, 1
CONE DYSTROPHY, X-LINKED, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 1994 1994
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2016 2016
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 10 9 0.010 None 1.000 1 2017 2017
CUI: C0265449
Disease: Pallister-Killian syndrome
Pallister-Killian syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2018 2018
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 30 0.100 None 1.000 1 2 2016 2016
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.010 None 1.000 1 2016 2016
CUI: C0023643
Disease: Lichen disease
Lichen disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2014 2014
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2014 2014
CUI: C0848332
Disease: Spots on skin
Spots on skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2017 2017
CUI: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C0796663
Disease: Childhood Testicular Germ Cell Tumor
Childhood Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 55 0.010 None 1.000 1 2003 2003
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		disease Neoplastic Process 73 5 0.010 None 1.000 1 2014 2014
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2017 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.010 None 1.000 1 2019 2019
CUI: C0026946
Disease: Mycoses
Mycoses 		group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 104 12 0.030 None 1.000 3 2014 2015
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2017 2017
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.010 None 1.000 1 2003 2003
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.010 None 1.000 1 2015 2015
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2015 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 1.000 1 2 2016 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2003 2003
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0