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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.320 None 1.000 3 2008 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.320 None 1.000 3 2008 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2014 2014
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2014 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2014 2014
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.100 None 0.893 28 2001 2020
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		disease Nervous System Diseases Disease or Syndrome 14 4 0.100 None 0.917 24 2003 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.100 None 0.952 21 2004 2019
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 3 2010 2010
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 3 2010 2010
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.090 None 0.889 9 2004 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.060 None 1.000 6 2002 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.060 None 0.833 6 2000 2018
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 9 0.040 None 1.000 4 2004 2008
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.030 None 1.000 3 2004 2006
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.030 None 1.000 3 2003 2004
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.030 None 1.000 3 1984 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.030 None 1.000 3 2004 2006
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.030 None 0.667 3 2008 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2012 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 1999 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1999 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 1.000 2 1999 2004
CUI: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 5 0.020 None 1.000 2 2019 2020