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 6 4 0.940 1.000 6 3 2004 2017
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 12 0.710 1.000 1 2015 2015
CUI: C4225270
Disease: KOSAKI OVERGROWTH SYNDROME
KOSAKI OVERGROWTH SYNDROME
disease Disease or Syndrome 1 1 0.700 1 1 2015 2015
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
disease Disease or Syndrome 1 3 0.600 5 3 1993 2016
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.600 1 2015 2015
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
disease Hemic and Lymphatic Diseases Disease or Syndrome 44 2 0.400 0
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 107 36 0.350 1.000 5 1995 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.320 1.000 2 3 2008 2011
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 108 86 0.310 1.000 1 2011 2011
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplastic Process 232 22 0.300 1.000 19 2003 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 2 2006 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 2 2014 2015
CUI: C0521174
Disease: Microcalcification
Microcalcification
phenotype Nutritional and Metabolic Diseases Pathologic Function 40 0.300 1 2015 2015
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 43 3 0.300 1 2015 2015
CUI: C0006663
Disease: Calcinosis
Calcinosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 49 0.300 1 2015 2015
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders
disease Nervous System Diseases Disease or Syndrome 12 0.300 1 2015 2015
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders
group Nervous System Diseases Disease or Syndrome 57 0.300 1 2015 2015
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases
group Nervous System Diseases Disease or Syndrome 19 2 0.300 1 2015 2015
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
disease Neoplastic Process 1 0.300 0
Infiltrating duct carcinoma of female breast
disease Neoplastic Process 21 5 0.300 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Neoplastic Process 382 223 0.300 0
Myeloproliferative Neoplasm, Unclassifiable
phenotype Neoplastic Process 1 1 0.300 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.220 1.000 4 1991 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 263 23 0.200 1.000 23 2000 2017
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 185 4 0.200 1.000 20 2002 2017