FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.120 Biomarker disease BEFREE Furthermore, we demonstrate that post-symptomatic delivery of frataxin-expressing AAV allows for rapid and complete rescue of the sensory neuropathy associated with frataxin deficiency, thus establishing the pre-clinical proof of concept for the potential of gene therapy in treating FA neuropathy. 29853274 2018
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.120 Biomarker disease BEFREE Intrafamilial variability was high regarding age at onset (17 months to 39 years), severity, and the clinical picture that ranged from pure sensory neuropathy with little cerebellar involvement to a Friedreich's ataxia-like phenotype. 14705117 2004
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.120 Biomarker disease HPO