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: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 1.000 strong 1.000 11 9 2013 2019
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		disease Neoplasms Disease or Syndrome 1 5 0.800 strong 1.000 5 5 2013 2017
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease Disease or Syndrome 6 2 0.730 strong 1.000 5 2 2015 2019
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 10 3 0.710 strong 1.000 4 2013 2015
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.710 strong 1.000 2 1 2015 2019
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		disease Disease or Syndrome 1 3 0.700 None 1.000 6 3 2013 2015
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.500 strong 1.000 13 6 2013 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.500 None 1.000 3 2004 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 None 1.000 2 2014 2015
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 		disease Hemic and Lymphatic Diseases Disease or Syndrome 119 5 0.400 None 0
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.330 None 1.000 5 1994 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 2 3 2008 2011
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 126 61 0.310 None 1.000 1 2011 2011
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.300 None 1.000 24 2003 2019
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 strong 1.000 1 2017 2017
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		disease Neoplastic Process 8 3 0.300 None 1.000 1 2007 2007
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2015 2015
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		group Nervous System Diseases Disease or Syndrome 27 1 0.300 None 1.000 1 2015 2015
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		group Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2015 2015
CUI: C3472621
Disease: Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement 		disease Neoplastic Process 1 0.300 None 1.000 1 2013 2013
CUI: C0521174
Disease: Microcalcification
Microcalcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2015 2015
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2015 2015
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 10 0.300 None 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.300 None 0