Gene: HSD17B10 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935476
rs28935476
HSD17B10
C 0.810 CausalMutation CLINVAR

dbSNP: rs28935476
rs28935476
HSD17B10
0.810 GeneticVariation UNIPROT

dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
C 0.800 CausalMutation CLINVAR

dbSNP: rs28935475
rs28935475
HSD17B10
A 0.800 CausalMutation CLINVAR

dbSNP: rs28935475
rs28935475
HSD17B10
0.800 GeneticVariation UNIPROT

dbSNP: rs587777651
rs587777651
HSD17B10
C 0.800 CausalMutation CLINVAR

dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
G 0.800 CausalMutation CLINVAR

dbSNP: rs886041974
rs886041974
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT

dbSNP: rs886041974
rs886041974
HSD17B10 ; RIBC1
C 0.800 CausalMutation CLINVAR

dbSNP: rs122462164
rs122462164
HSD17B10
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556894502
rs1556894502
HSD17B10 ; RIBC1
0.700 GeneticVariation UNIPROT

dbSNP: rs886037927
rs886037927
HSD17B10
T 0.700 GeneticVariation CLINVAR

dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs104886492
rs104886492
HSD17B10
0.700 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021

2003
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 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
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 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
dbSNP: rs104886492
rs104886492
HSD17B10
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
dbSNP: rs122461163
rs122461163
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 17236142

2007
dbSNP: rs587777651
rs587777651
HSD17B10
0.800 GeneticVariation UNIPROT The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 17236142

2007
dbSNP: rs62626305
rs62626305
HSD17B10 ; RIBC1
0.800 GeneticVariation UNIPROT The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 17236142

2007
dbSNP: rs104886492
rs104886492
HSD17B10
0.700 GeneticVariation UNIPROT The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 17236142

2007
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