Source: CLINGEN

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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 16176262

2005
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN This confirms that MHBD deficiency is caused by mutations in the HADH2 gene. 12696021

2003
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CLINGEN Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase. 11559359

2001