rs28935476
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs28935476
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs122461163
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28935475
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28935475
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs587777651
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs62626305
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886041974
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886041974
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs122462164
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1556894502
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs886037927
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs122461163
|
|
|
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 |
rs587777651
|
|
|
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 |
rs62626305
|
|
|
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 |
rs104886492
|
|
|
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 |
rs122461163
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
rs587777651
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
rs62626305
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
rs104886492
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
rs122461163
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
rs587777651
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
rs62626305
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
rs104886492
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
rs122461163
|
|
|
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 |