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 0.400 None 0.864 22 2007 2020
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.140 None 1.000 4 2009 2016
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.030 None 0.667 3 2009 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2010 2019
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.120 None 0.500 2 2009 2009
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.020 None 0.500 2 2012 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 2015 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2006 2006
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2016 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2013 2013
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2007 2007
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2014 2014
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None < 0.001 1 2014 2014
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.300 None 1.000 1 2007 2007
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 3 18 0.300 None 1.000 1 2007 2007
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 22 22 0.010 None 1.000 1 2017 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0796000
Disease: Multiple non-ossifying fibromatosis
Multiple non-ossifying fibromatosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.010 None 1.000 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2010 2010
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.400 None 1.000 1 2007 2007
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 46 5 0.010 None 1.000 1 2009 2009