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: C4552048
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 1
ABDOMINAL OBESITY-METABOLIC SYNDROME 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 5 0.100 None 0
CUI: C0279549
Disease: Philadelphia chromosome negative chronic myelogenous leukemia
Philadelphia chromosome negative chronic myelogenous leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 7 0.010 None 1.000 1 1993 1993
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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
CUI: C0685898
Disease: Food anaphylaxis
Food anaphylaxis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2018 2018
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.040 None 1.000 4 2011 2019
CUI: C0279582
Disease: Childhood Burkitt Leukemia
Childhood Burkitt Leukemia 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 1990 1990
CUI: C0279591
Disease: Adult Burkitt Leukemia
Adult Burkitt Leukemia 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 1990 1990
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: 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: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 24 0.030 None 0.667 3 2005 2014
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: 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: C0221248
Disease: Tophus
Tophus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2017 2017
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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
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: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia 		disease Hemic and Lymphatic Diseases Neoplastic Process 16 4 0.010 None 1.000 1 1998 1998
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.070 None 1.000 7 2 2004 2019
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C3890429
Disease: Liquid Tumor
Liquid Tumor 		disease Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.100 None 1.000 18 2013 2020
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 23 34 0.010 None 1.000 1 2000 2000
CUI: C0856053
Disease: Leukemia secondary
Leukemia secondary 		disease Neoplastic Process 24 4 0.010 None 1.000 1 1997 1997
CUI: C0279543
Disease: Philadelphia chromosome positive chronic myelogenous leukemia
Philadelphia chromosome positive chronic myelogenous leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 27 3 0.060 None 1.000 6 1985 2018
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		phenotype Nervous System Diseases Pathologic Function 27 3 0.100 None 0