Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB ×
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