Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516460
rs1057516460
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 22459206

2012
dbSNP: rs1057516460
rs1057516460
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624

2011
dbSNP: rs1057516460
rs1057516460
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935

2011
dbSNP: rs1057516460
rs1057516460
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 10352164

1999
dbSNP: rs1057516460
rs1057516460
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