Disease: Neuropathy ataxia and retinis pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
0.800 CausalMutation CLINVAR Maternally inherited Leigh syndrome. 8095070 1993
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
0.800 CausalMutation CLINVAR Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 1539598 1992
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
0.800 GeneticVariation UNIPROT A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990