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: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.390 None 1.000 9 2012 2018
CUI: C2931004
Disease: Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 9 0.730 strong 1.000 8 9 2003 2019
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		disease Disease or Syndrome 1 9 0.600 strong 1.000 6 9 2012 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 2009 2012
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.020 None 1.000 2 2009 2012
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2015 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2015 2015
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None < 0.001 1 2015 2015
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2016 2016
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 2014 2014
CUI: C0023281
Disease: Leishmaniasis
Leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 198 4 0.010 None 1.000 1 2014 2014
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 102 17 0.010 None 1.000 1 2018 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.300 None 1.000 1 2011 2011
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.010 None 1.000 1 2009 2009
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2016 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2013 2013
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2016 2016
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None < 0.001 1 2006 2006
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola 		disease Infections Disease or Syndrome 164 1 0.010 None 1.000 1 2019 2019
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		disease Disease or Syndrome 12 0.010 None 1.000 1 2014 2014
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.110 None 1.000 1 2014 2014
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.010 None 1.000 1 2015 2015
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2011 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2019 2019
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2013 2013