Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 CausalMutation CLINVAR SSIEM 2016 Annual Symposium - Abstracts : Rome, Italy, September 2016. 27518768

2016
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 CausalMutation CLINVAR Intermittent maple syrup urine disease: two case reports. 24394677

2014
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 GeneticVariation CLINVAR Intermittent maple syrup urine disease: two case reports. 24394677

2014
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 GeneticVariation CLINVAR Phenylbutyrate therapy for maple syrup urine disease. 21098507

2011
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 CausalMutation CLINVAR Phenylbutyrate therapy for maple syrup urine disease. 21098507

2011
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 GeneticVariation CLINVAR In summary, the pathogenic effect of the novel mutations is depletion of cellular protein, and the intermittent form of MSUD appears to be attributed to the residual R301C mutant protein in these patients. 20570198

2010
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.710 GeneticVariation BEFREE In summary, the pathogenic effect of the novel mutations is depletion of cellular protein, and the intermittent form of MSUD appears to be attributed to the residual R301C mutant protein in these patients. 20570198

2010
dbSNP: rs185492864
rs185492864
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		A 0.710 CausalMutation CLINVAR In summary, the pathogenic effect of the novel mutations is depletion of cellular protein, and the intermittent form of MSUD appears to be attributed to the residual R301C mutant protein in these patients. 20570198

2010