Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APTX disease C1859598 GeneticVariation 0.8 orphanet , disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APTX disease C1859598 AlteredExpression 0.8 orphanet , disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APTX disease C1859598 CausalMutation 0.8 orphanet , disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APTX disease C1859598 Biomarker 0.8 orphanet , disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia MRE11 disease C1859598 GeneticVariation 0.31 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia MRE11 disease C1859598 GermlineCausalMutation 0.31 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia PNKP disease C1859598 GeneticVariation 0.13 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia IDH1 disease C1859598 GeneticVariation 0.05 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia IDH1 disease C1859598 Biomarker 0.05 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia SETX disease C1859598 GeneticVariation 0.04 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia SETX disease C1859598 Biomarker 0.04 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia XRCC6P5 disease C1859598 Biomarker 0.03 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia FXN disease C1859598 Biomarker 0.03 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia FXN disease C1859598 GeneticVariation 0.03 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia EGFR disease C1859598 GeneticVariation 0.02 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia EGFR disease C1859598 Biomarker 0.02 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APEX1 disease C1859598 Biomarker 0.02 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia APEX1 disease C1859598 AlteredExpression 0.02 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia OGG1 disease C1859598 Biomarker 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia STS disease C1859598 Biomarker 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia MGMT disease C1859598 PosttranslationalModification 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia ATM disease C1859598 Biomarker 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia NFE2L2 disease C1859598 AlteredExpression 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia TOP1 disease C1859598 GeneticVariation 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia SDHA disease C1859598 AlteredExpression 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia XRCC1 disease C1859598 Biomarker 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia PARP1 disease C1859598 Biomarker 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia NRF1 disease C1859598 AlteredExpression 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia GABPA disease C1859598 AlteredExpression 0.01 disgenet
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia LAMA1 NA C1859598 NA NA orphanet
click here to return to the previous page