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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 1990 1990
CUI: C0041782
Disease: Deficiency anemias
Deficiency anemias
group Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1994 1994
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.400 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: 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: C0267537
Disease: Typhlitis
Typhlitis
disease Digestive System Diseases; Infections Disease or Syndrome 4 0.300 strong 1.000 3 1999 2009
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: 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: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.010 None 1.000 1 2001 2001
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2001 2001
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: 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: 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: C0013221
Disease: Drug toxicity
Drug toxicity
group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 1 2005 2005
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 1 2005 2005
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.300 None 1.000 1 2005 2005
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: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2005 2005
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: 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
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2006 2010
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.020 None 1.000 2 2006 2020
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 233 56 0.010 None 1.000 1 1 2006 2006