Disease: Amaurosis congenita of Leber, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.020 GeneticVariation disease BEFREE Two additional IMPDH1 variants, Arg105Trp and Asn198Lys, were found in two patients with isolated LCA. 16384941 2006
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.020 GeneticVariation disease BEFREE Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA). 16936083 2006