XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Disease: Oculomotor apraxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 GeneticVariation disease BEFREE Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. 28002403 2017
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO