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: 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.400 Biomarker phenotype 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 II deficiency with methylmalonic aciduria in three sisters. 10518276 1999
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.400 Biomarker phenotype HPO