Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		disease 0.720 None 1.000 4 0 1984 2014
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		phenotype 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 2009 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0400823
Disease: Neutropenic colitis
Neutropenic colitis 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0267537
Disease: Typhlitis
Typhlitis 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		phenotype 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.300 strong 1.000 1 0 2009 2009