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: C1856057
Disease: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
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
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C2930835
Disease: Optic Disc Edema
Optic Disc Edema 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C0553573
Disease: Primary infertility
Primary infertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1 2015 2015
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
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: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		disease Disease or Syndrome 10 8 0.010 None 1.000 1 2016 2016
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 1999 1999
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1 2008 2008
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1 2008 2008
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2003 2003
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 1 2015 2015
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		disease Disease or Syndrome 25 6 0.010 None 1.000 1 1 2017 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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
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: C3714731
Disease: Early childhood caries
Early childhood caries 		disease Stomatognathic Diseases Disease or Syndrome 30 8 0.010 None 1.000 1 1 2017 2017
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.010 None 1.000 1 1 2013 2013
CUI: C0030353
Disease: Papilledema
Papilledema 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 35 1 0.010 None 1.000 1 2019 2019
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2007 2007
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2007 2007
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: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2007 2007