| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. | 28888424 | 2017 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. | 26950678 | 2016 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. | 25575635 | 2015 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. | 25925575 | 2015 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. | 24549042 | 2014 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. | 22132097 | 2011 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. | 20077426 | 2010 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. | 19706438 | 2009 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. | 18996107 | 2009 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. | 17236142 | 2007 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. | 16148061 | 2005 | |||||
2-methyl-3-hydroxybutyric aciduria
|
0.700 | GeneticVariation | UNIPROT | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. | 12696021 | 2003 | |||||
Learning Disabilities
|
0.010 | GeneticVariation | BEFREE | The affected boy, who possesses mutant HSD10 (p.V65A), has a neurological syndrome with metabolic derangements, choreoathetosis, refractory epilepsy and learning disability. | 22132097 | 2011 | |||||
Intellectual Disability
|
0.010 | GeneticVariation | BEFREE | The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. | 22132097 | 2011 |