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: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.800 None 0.962 26 1 1992 2019
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		disease Neoplasms Neoplastic Process 392 16 0.050 None 1.000 5 1998 2008
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: 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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 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: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		disease Disease or Syndrome 1 7 0.700 limited 1.000 2 7 2015 2015
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		disease Neoplasms Neoplastic Process 225 9 0.010 None 1.000 1 1997 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2017 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2016 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2019 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2019 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 16 4 0.010 None 1.000 1 2018 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None < 0.001 1 2009 2009
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None 1.000 1 1997 1997
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2018 2018
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		disease Neoplasms Neoplastic Process 183 5 0.010 None 1.000 1 1997 1997
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2001 2001
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: 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: 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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
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