Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease GENOMICS_ENGLAND Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. 29181510 2018
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease GENOMICS_ENGLAND Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 GeneticVariation disease UNIPROT Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 CausalMutation disease CLINVAR
CUI: C4225227
Disease: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease CTD_human