Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE Since the neuromuscular deficits of ATTP-KO mice appear to be similar to those of patients with ATTP mutations, it is suggested that over-expression of sln and uchl1 may also contribute to AT-sensitive ataxia in humans. 19204867

2009
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 15953402

2005
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE Mutations in another protein containing a CRAL-TRIO domain, alpha-tocopherol transfer protein (TTPA), cause a vitamin E-responsive ataxia. 14556008

2003
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol transfer protein gene. 11554913

2001
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 AlteredExpression BEFREE By contrast, in the DRG, thought to be mainly responsible for ataxia, no expression of alpha-TTP was detected, and the tissue concentration of vitamin E increased to normal after supplementation. 10727494

2000
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. 9931538

1999
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004134
Disease: Ataxia
Ataxia 		0.190 GeneticVariation BEFREE alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 9270601

1997