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.
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
disease Disease or Syndrome 1 5 0.700 None 1.000 5 5 2013 2016
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma
disease Neoplasms Neoplastic Process 77 0.600 moderate 0.944 54 1997 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 0.500 strong 1.000 3 2013 2016
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.460 None 1.000 7 1990 1995
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
disease Neoplasms Neoplastic Process 78 0.400 None 0.980 50 1997 2019
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
disease Neoplasms Neoplastic Process 33 0.400 None 0.923 26 1997 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 2011 2017
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
disease Neoplasms Neoplastic Process 2 0.320 None 1.000 2 2002 2006
Metastatic Dermatofibrosarcoma Protuberans
disease Neoplasms Neoplastic Process 11 0.320 None 0.500 2 2001 2006
CUI: C0006663
Disease: Calcinosis
Calcinosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2015 2015
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: C0017566
Disease: Gingival Hyperplasia
Gingival Hyperplasia
phenotype Stomatognathic Diseases Pathologic Function 2 0.300 None 1.000 1 1996 1996
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: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.300 None 1.000 1 2012 2012
CUI: C3489628
Disease: Thrombocytosis, Autosomal Dominant
Thrombocytosis, Autosomal Dominant
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.300 None 1.000 1 2005 2005
CUI: C0016059
Disease: Fibrosis
Fibrosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.300 None 1.000 1 2012 2012
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
Idiopathic basal ganglia calcification 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.300 None 1.000 1 2013 2013
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.300 None 1.000 1 2005 2005
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.300 None 1.000 1 2004 2004
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.300 None 1.000 1 2001 2001
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: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing
disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2004 2004
Dermatofibrosarcoma Protuberans, Myxoid
disease Neoplasms Neoplastic Process 1 0.300 None 0