LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: Scleral staphyloma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155359
Disease: Scleral staphyloma
Scleral staphyloma 		0.010 GeneticVariation disease BEFREE The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene. 12642313 2003