Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human Ataxia with vitamin E deficiency is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (TTPA) gene. 12470185

2002
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 18458655

2008
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human We produced a model mouse of AVED by deleting the alpha-TTP gene, which showed ataxia and retinal degeneration after 1 year of age. 11752462

2001
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human Ataxia with vitamin E deficiency in southeast Norway, case report. 19566498

2009
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 10896705

2000
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker CTD_human Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460

2004