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: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
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
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
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		disease Disease or Syndrome 3 0.020 None 1.000 2 2015 2019
CUI: C1298680
Disease: Occlusive stroke
Occlusive stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2001 2001
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0 1
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 None 1.000 1 2016 2016
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 68 0.010 None 1.000 1 2006 2006
CUI: C1959584
Disease: Cardiac Carcinoma
Cardiac Carcinoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 10 4 0.010 None 1.000 1 2 2008 2008
CUI: C0268263
Disease: Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 26 0.010 None 1.000 1 2017 2017
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
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
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2006 2006
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 4 0.010 None 1.000 1 2006 2006
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 16 0.300 None 1.000 1 2006 2006
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		disease Disease or Syndrome 17 9 0.010 None 1.000 1 2011 2011
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia 		disease Disease or Syndrome 17 4 0.010 None 1.000 1 1 2008 2008
CUI: C1394891
Disease: Intrinsic Factor Deficiency
Intrinsic Factor Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2006 2006
CUI: C3494652
Disease: Severe dementia
Severe dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 19 3 0.010 None 1.000 1 2004 2004
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
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
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: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2006 2006
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2013 2013