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: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		disease Disease or Syndrome 5 5 0.720 None 1.000 9 5 1984 2014
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: 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: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 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: 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: 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: 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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.310 None 1.000 1 2006 2006
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: 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: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		disease Neoplasms Neoplastic Process 45 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 2005 2005
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
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: 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: 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: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.300 strong 1.000 1 2009 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.300 None 1.000 1 2007 2007
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.300 None 1.000 1 2005 2005
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2007 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2007 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.300 None 1.000 1 2006 2006