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: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 7 0.800 0.949 43 7 1992 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.400 0.913 24 2001 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 442 24 0.400 1.000 17 2001 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 547 293 0.370 1.000 7 1 2005 2014
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.370 limited 1.000 7 2000 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 limited 7 1993 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.300 limited 0
METABOLIC SYNDROME, PROTECTION AGAINST
disease Disease or Syndrome 1 0.300 0
Abdominal obesity metabolic syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.300 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1
phenotype Finding 1 0.300 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 26 0.240 1.000 5 2002 2016
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
group Nutritional and Metabolic Diseases Disease or Syndrome 42 2 0.200 1 2002 2002
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 875 64 0.100 0.957 188 2 1985 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.100 1.000 30 1988 2016
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.100 0.931 29 1 1988 2018
CUI: C0005699
Disease: Blast Phase
Blast Phase
disease Hemic and Lymphatic Diseases; Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 213 13 0.100 1.000 18 1 1987 2014
Philadelphia chromosome-positive acute lymphoblastic leukemia
disease Neoplastic Process 69 7 0.100 1.000 14 1 1987 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.100 1.000 10 1987 2011
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat
phenotype Pathologic Function 5 0.100 0
Central nervous system demyelination
disease Disease or Syndrome 48 3 0.100 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.100 0
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis
disease Disease or Syndrome 11 0.100 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Finding 107 0.100 0