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: C0432411
Disease: Chromosome 9, trisomy
Chromosome 9, trisomy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 415 84 0.010 None 1.000 1 2016 2016
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2017 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.010 None 1.000 1 2013 2013
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 1.000 1 1985 1985
CUI: C0333516
Disease: Tumor necrosis
Tumor necrosis
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 350 1 0.010 None 1.000 1 1998 1998
CUI: C0302361
Disease: Disease caused by Shigella sonnei
Disease caused by Shigella sonnei
disease Digestive System Diseases; Infections Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2009 2009
CUI: C0795878
Disease: Monosomy 22
Monosomy 22
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.010 None 1.000 1 2012 2012
Precursor B-cell lymphoblastic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.010 None 1.000 1 2019 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.010 None 1.000 1 2019 2019
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia
disease Disease or Syndrome 28 11 0.010 None 1.000 1 2003 2003
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 1997 1997
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2007 2007
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2015 2015
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 51 0.010 None 1.000 1 2000 2000
Very long chain acyl-CoA dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 118 0.010 None 1.000 1 2018 2018
CUI: C3890429
Disease: Liquid Tumor
Liquid Tumor
disease Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C4049328
Disease: Renal medullary carcinoma
Renal medullary carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 0.010 None 1.000 1 2005 2005
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2015 2015
CUI: C4288893
Disease: Infant Acute Biphenotypic Leukemia
Infant Acute Biphenotypic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 1998 1998
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.010 None 1.000 1 1991 1991
CUI: C0002792
Disease: anaphylaxis
anaphylaxis
phenotype Immune System Diseases Disease or Syndrome 180 4 0.010 None 1.000 1 2018 2018
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2009 2009
CUI: C4721444
Disease: Burkitt Leukemia
Burkitt Leukemia
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 1990 1990