FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Dysarthria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.110 GeneticVariation disease BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622 1999
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.110 Biomarker disease HPO