Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781222705
rs781222705
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. 26109258

2016
dbSNP: rs781222705
rs781222705
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 27491397

2016
dbSNP: rs781222705
rs781222705
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. 23868323

2013
dbSNP: rs781222705
rs781222705
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175

1995