TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Ataxia with vitamin E deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells? 3837850 1985
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease UNIPROT Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 7566022 1995
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 7719340 1995
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease. 7719340 1995
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED. 8602747 1996
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED. 8602747 1996
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease BEFREE These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED. 8602747 1996
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease UNIPROT These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED. 8602747 1996
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE The alpha-tocopherol transfer protein (alpha-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin E deficiency. 9189046 1997
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE This report concerns the characterization of the alpha-tocopherol transfer protein (alpha-TTP) gene in a Japanese family affected by ataxia with isolated vitamin E deficiency (AVED). 9270601 1997
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease UNIPROT We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. 9588854 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. 9931538 1999
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 10360777 1999
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease CTD_human Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 10896705 2000
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 11013295 2000
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease MGD Alpha-tocopherol transfer protein is important for the normal development of placental labyrinthine trophoblasts in mice. 11076932 2001
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease MGD Increased atherosclerosis in hyperlipidemic mice deficient in alpha -tocopherol transfer protein and vitamin E. 11095717 2000