Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness
0.110 GeneticVariation phenotype BEFREE Representative of these mutations is a heteroplasmic mutation in MTND6 at np 14459 whose clinical presentations range from adult-onset blindness to pediatric dystonia and basal ganglial degeneration. 8090716 1994
CUI: C0456909
Disease: Blindness
Blindness
0.110 GeneticVariation phenotype CLINVAR