NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.
|
28369803 |
2017 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.
|
28369803 |
2017 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
Biomarker
|
disease |
MGD |
Novel insights into SLC25A46-related pathologies in a genetic mouse model.
|
28376086 |
2017 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826) and congenital lethal pontocerebellar hypoplasia (PCH).
|
28653766 |
2018 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.510 |
Biomarker
|
disease |
MGD |
Novel insights into SLC25A46-related pathologies in a genetic mouse model.
|
28376086 |
2017 |
Optic Atrophy
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.
|
26168012 |
2015 |
Optic Atrophy
|
0.440 |
Biomarker
|
disease |
HPO |
|
|
|
Optic Atrophy
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature.
|
30178502 |
2018 |
Optic Atrophy
|
0.440 |
Biomarker
|
disease |
BEFREE |
The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.
|
28376086 |
2017 |
Optic Atrophy
|
0.440 |
Biomarker
|
disease |
CTD_human |
The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.
|
26168012 |
2015 |
Optic Atrophy
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
In addition, it is known that SLC25A46 mutations in human cause optic atrophy and knockdown of dSLC25A46 induces aberrant morphology of optic stalk of photoreceptor neurons in third instar larvae.
|
29604258 |
2018 |
Optic Atrophy
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.320 |
Biomarker
|
disease |
CTD_human |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
Hereditary Motor and Sensory-Neuropathy Type II
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy and Leigh syndrome.
|
29604258 |
2018 |
Hereditary Motor and Sensory-Neuropathy Type II
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy, and Leigh syndrome.
|
31614134 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
Roussy-Levy Syndrome (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
|
26168012 |
2015 |