Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.100 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.100 CausalMutation disease CLINVAR Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000