TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 GeneticVariation disease CLINVAR Update on transcobalamin deficiency: clinical presentation, treatment and outcome. 24305960 2014
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 GermlineCausalMutation disease ORPHANET Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents. 20607612 2010
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 GeneticVariation disease CLINVAR Should transcobalamin deficiency be treated aggressively? 20352340 2010
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 AlteredExpression disease BEFREE Some of the specific findings include (a) identification of the structural relationship of the ligand TC II with other members of the Cbl-binding family of proteins, intrinsic factor (IF) and haptocorrin (HC), (b) regulation of TC II gene expression, (c) molecular basis for human TC II deficiency in patients with a lack of plasma TC II, (d) membrane expression, interactions, and dimerization of TC II-R, and (e) targeting and function of TC II-R in polarized epithelial cells. 10714245 2000
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Transcobalamin II deficiency with methylmalonic aciduria in three sisters. 10518276 1999
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Identification of two mutant alleles of transcobalamin II in an affected family. 7849710 1994
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease BEFREE The abnormality in transcobalamin II deficiency is clearly not limited solely to deficiency of transcobalamin II. 6696994 1984
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 CausalMutation disease CLINVAR
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease CTD_human
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.400 Biomarker disease GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.400 Biomarker disease GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.400 Biomarker phenotype GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		0.400 Biomarker phenotype GENOMICS_ENGLAND Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese. 18956255 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. 19373259 2009
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.400 Biomarker disease GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.400 Biomarker disease GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.400 Biomarker phenotype GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		0.400 Biomarker phenotype GENOMICS_ENGLAND Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 18956254 2008
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.400 Biomarker disease GENOMICS_ENGLAND Transcobalamin II deficiency with methylmalonic aciduria in three sisters. 10518276 1999