FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Scoliosis, unspecified ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 GeneticVariation disease BEFREE We compared the patient's clinical data to expansion/deletion carriers available in the literature and suggest that, in clinical practice, the FXN deletion test should be taken into account in patients with early-onset, rapid progressive ataxia and severe scoliosis. 26906906 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 Biomarker disease BEFREE Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy. 17826840 2007
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.120 Biomarker disease HPO