Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 Biomarker phenotype BEFREE Mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells. 28934388 2017
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. 28558379 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 Biomarker phenotype BEFREE Mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells. 28934388 2017
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
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: 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		0.300 Biomarker disease CTD_human Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 26168012 2015
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.030 Biomarker disease BEFREE This genotype-phenotype correlation underscores the importance of SLC25A46 and fine tuning of mitochondrial fission and fusion in pontocerebellar hypoplasia and central neurodevelopment in addition to optic and peripheral neuropathy across the life span. 27543974 2016
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.030 GeneticVariation disease BEFREE Our study adds to the definition of the SLC25A46-associated phenotypic spectrum that includes neonatal fatalities due to PCH as the severe extreme. 28653766 2018
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.030 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: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE The PCH1sub-types with early death (between ages 1 day and 17 months), seen in patients with p.G31A/EXOSC3 or SLC25A46 mutations have a SMA type 1-like clinical presentation but with global developmental delay, visual and hearing impairment, with or without microcephaly, nystagmus and optic atrophy. 29656927 2018
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		0.300 Biomarker disease CTD_human Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 26168012 2015
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: 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: 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: 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