Gene: HSD17B10 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935476
rs28935476
HSD17B10
0.810 GeneticVariation UNIPROT

dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424

2017
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424

2017
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424

2017
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 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
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635

2015
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. 25925575

2015
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. 25925575

2015
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635

2015
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635

2015
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. 25925575

2015
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 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
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426

2010
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 19706438

2009
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 18996107

2009
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 19706438

2009