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.
Lupus Vasculitis, Central Nervous System
disease Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.010 None 1.000 1 2019 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2019 2019
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2015 2015
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2019 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.010 None 1.000 1 2020 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2019 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2012 2012
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2015 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2018 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.010 None 1.000 1 2019 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2015 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2019 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2019 2019
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.010 None < 0.001 1 2018 2018
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2019 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2015 2015
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2015 2015
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
disease Infections Disease or Syndrome 192 1 0.010 None 1.000 1 2017 2017
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 1 2017 2017
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2015 2015
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.010 None 1.000 1 2015 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2015 2015