Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424

2017

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Mutations in HSD17B10 cause the HSD10 disease, traditionally classified as a metabolic disorder due to the role of SDR5C1 in fatty and amino acid metabolism. 26950678

2016

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635

2015

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease. 25925575

2015

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 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

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 18996107

2009

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 19706438

2009

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein. 17236142

2007

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 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

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 GeneticVariation UNIPROT This confirms that MHBD deficiency is caused by mutations in the HADH2 gene. 12696021

2003