Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
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
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.900 CausalMutation disease CLINVAR
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.900 Biomarker disease CTD_human
CUI: C4225302
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 		0.900 GeneticVariation disease CLINVAR
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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
CUI: C0029124
Disease: Optic Atrophy
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
CUI: C0029124
Disease: Optic Atrophy
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
CUI: C0029124
Disease: Optic Atrophy
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
CUI: C0029124
Disease: Optic Atrophy
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
CUI: C0029124
Disease: Optic Atrophy
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
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.440 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.440 GeneticVariation disease CLINVAR
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
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
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
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