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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 162 49 0.310 1.000 1 2010 2010
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.300 1 2012 2012
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2010 2010
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 804 37 0.300 1 2010 2010
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 1 2010 2010
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 0.300 1 2010 2010
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.300 1 2010 2010
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2010 2010
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 245 63 0.300 1 2004 2004
CUI: C0086457
Disease: Industrial Dermatosis
Industrial Dermatosis
disease Occupational Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 1 2010 2010
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2010 2010
CUI: C0023453
Disease: Leukemia, Lymphocytic, Acute, L2
Leukemia, Lymphocytic, Acute, L2
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 52 0.300 1 2012 2012
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 759 189 0.300 1 2011 2011
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 1 2010 2010
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2010 2010
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.300 1 2011 2011
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 1 2010 2010
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2010 2010
CUI: C0028796
Disease: Dermatitis, Occupational
Dermatitis, Occupational
disease Occupational Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 1 2010 2010
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Disease or Syndrome 387 103 0.200 1 2010 2010
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 436 101 0.200 1 2010 2010
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 1 1 2017 2017
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
disease Neoplastic Process 232 51 0.010 1.000 1 2007 2007
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 83 14 0.010 1.000 1 2009 2009