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.
Methylcobalamin Deficiency, CblG Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 9 0.700 None 1.000 5 8 1996 2017
Neural tube defect, folate-sensitive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.500 None 1.000 1 2016 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.857 21 3 2007 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 0.857 21 3 2007 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 moderate 1.000 1 2017 2017
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.360 None 0.833 6 1 2006 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.330 None 0.750 4 1 2004 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.320 None 1.000 3 1 1987 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.320 None 0.667 3 2007 2009
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.320 None 1.000 3 1 1987 2017
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.320 None 1.000 2 2004 2006
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.310 None 1.000 2 2006 2011
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.310 None 1.000 2 2006 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 1 2007 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None 1.000 1 1 2007 2007
CUI: C0588008
Disease: Severe depression
Severe depression
disease Mental Disorders Mental or Behavioral Dysfunction 46 2 0.310 None 1.000 1 2008 2008
CUI: C0013221
Disease: Drug toxicity
Drug toxicity
group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 2 2005 2009
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 2 2005 2009
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum
disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2009 2009
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2006 2006
Lymphoma, Small Cleaved-Cell, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 1.000 1 2006 2006
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 59 63 0.300 None 1.000 1 2005 2005
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.300 None 1.000 1 2011 2011
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
group Digestive System Diseases Disease or Syndrome 144 14 0.300 None 1.000 1 2009 2009
CUI: C0268611
Disease: Arakawa syndrome 2
Arakawa syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.300 strong 1.000 1 2016 2016