Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11
0.700 GeneticVariation disease UNIPROT Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 16384941 2006
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11
0.700 CausalMutation disease CLINVAR
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11
0.700 Biomarker disease CTD_human