TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.400 strong 1.000 3 1999 2009
CUI: C0400823
Disease: Neutropenic colitis
Neutropenic colitis 		disease Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 strong 1.000 3 1999 2009
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		phenotype Laboratory or Test Result 4 0.400 strong 1.000 3 1999 2009
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.400 strong 1.000 3 1999 2009
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.400 strong 1.000 3 1999 2009
CUI: C0267537
Disease: Typhlitis
Typhlitis 		disease Digestive System Diseases; Infections Disease or Syndrome 4 0.300 strong 1.000 3 1999 2009
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.400 strong 1.000 3 1999 2009
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 1 0.300 strong 1.000 3 1999 2009
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.300 strong 1.000 1 2009 2009
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		phenotype Diagnostic Procedure 5 0.300 strong 1.000 1 2009 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2009 2009
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.300 strong 1.000 1 2009 2009
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		disease Disease or Syndrome 5 5 0.720 None 1.000 9 5 1984 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.050 None 1.000 5 1 1986 2019
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.330 None 1.000 4 1972 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 4 2 2006 2013
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.030 None 1.000 3 2 2003 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.030 None 1.000 3 2 2008 2017
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 4 0.020 None 1.000 2 2 2006 2015
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.020 None 1.000 2 2006 2020
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.020 None 0.500 2 3 2005 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.020 None 1.000 2 1 2003 2007
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 1.000 2 2011 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.020 None 0.500 2 2 2008 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.020 None 1.000 2 2 2008 2017