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: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Ataxia with vitamin e deficiency in norway. 25614784 2015
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. 23445347 2014
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. 12112220 2002
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 12470185 2002
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 11013295 2000
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 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: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. 9588854 1998
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747 1996
dbSNP: rs397515379
rs397515379
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		TAA 0.700 CausalMutation CLINVAR Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 7719340 1995