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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.090 None 1.000 9 2005 2017
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.080 None 0.875 8 2003 2018
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.080 None 1.000 8 2008 2020
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 38 0.060 None 1.000 6 2003 2010
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.050 None 0.800 5 2008 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.150 None 0.800 5 2008 2017
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		group Neoplasms Neoplastic Process 491 20 0.040 None 1.000 4 2002 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.040 None 1.000 4 2005 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.040 None 1.000 4 2008 2017
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.030 None 1.000 3 2010 2018
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		phenotype Neoplasms Neoplastic Process 143 12 0.030 None 1.000 3 2003 2014
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.430 None 1.000 3 2014 2017
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.030 None 1.000 3 2013 2015
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.030 None 1.000 3 2009 2015
CUI: C1562908
Disease: Leprosy, Paucibacillary
Leprosy, Paucibacillary 		disease Infections Disease or Syndrome 31 2 0.020 None 1.000 2 2008 2018
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.020 None 1.000 2 2019 2019
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 19 0.020 None 1.000 2 2013 2017
CUI: C0265808
Disease: Cyanotic congenital heart disease
Cyanotic congenital heart disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 14 0.020 None 1.000 2 2017 2018
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		disease Neoplasms Neoplastic Process 12 0.120 None 1.000 2 2009 2012
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 4 67 0.020 None 1.000 2 2011 2012
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.020 None 1.000 2 2009 2015
CUI: C2930839
Disease: Bilateral pheochromocytoma and islet cell adenoma of the pancreas
Bilateral pheochromocytoma and islet cell adenoma of the pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 10 0.020 None 1.000 2 2005 2007
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		phenotype Neoplasms Neoplastic Process 267 3 0.020 None 1.000 2 2002 2018
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 65 11 0.010 None 1.000 1 2009 2009
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		disease Cardiovascular Diseases Disease or Syndrome 57 3 0.010 None 1.000 1 2013 2013