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.
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 5 0.700 None 1.000 5 5 1998 2016
Neural tube defect, folate-sensitive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.500 strong 1.000 1 2016 2016
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.460 None 1.000 6 1998 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.390 None 1.000 11 3 2002 2019
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.370 None 1.000 9 2 1999 2018
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.370 None 1.000 8 2 2005 2019
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.360 None 0.714 7 1 2006 2019
Cystathionine beta-Synthase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 27 118 0.300 None 1.000 2 2002 2005
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 2 2006 2007
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 1 2011 2011
CUI: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2007 2007
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2007 2007
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma
disease Neoplasms Neoplastic Process 183 5 0.300 None 1.000 1 2007 2007
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2007 2007
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.300 None 1.000 1 2011 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.300 None 1.000 1 2007 2007
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2007 2007
CUI: C0013221
Disease: Drug toxicity
Drug toxicity
group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 1 2011 2011
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.300 None 1.000 1 2007 2007
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.300 None 1.000 1 2006 2006
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2007 2007
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2007 2007
CUI: C0917731
Disease: Male sterility
Male sterility
phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2006 2006
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.180 None 1.000 8 4 1999 2017
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.120 None 1.000 2 1999 2007