Gene: HSD17B10 ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635 2015
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype 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 		0.750 GeneticVariation phenotype UNIPROT This confirms that MHBD deficiency is caused by mutations in the HADH2 gene. 12696021 2003