TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Ataxia with vitamin E deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350 2014
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT Molecular determinants of heritable vitamin E deficiency. 15065857 2004
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307 1998
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747 1996
dbSNP: rs397515522
rs397515522
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.700 GeneticVariation UNIPROT Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 7566022 1995