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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2017 2017
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.020 None 1.000 2 2011 2012
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.120 None 1.000 2 2013 2014
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.120 None 1.000 2 2011 2011
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.020 None 1.000 2 2011 2012
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.020 None 1.000 2 2010 2014
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2011 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2019 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2015 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2019 2019
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 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 2017 2017
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 10 0.010 None 1.000 1 2011 2011
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2019 2019
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 129 5 0.010 None 1.000 1 2017 2017
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2018 2018
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 67 0.010 None 1.000 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2009 2009
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.400 limited 1.000 1 2015 2015
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 2010 2010
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2011 2011
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None 1.000 1 2011 2011