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: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 26068213 2015
dbSNP: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383 2014
dbSNP: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 15953402 2005
dbSNP: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 12039660 2002
dbSNP: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307 1998
dbSNP: rs397515377
rs397515377
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		C 0.700 CausalMutation CLINVAR Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 7719340 1995