Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 Biomarker group BEFREE The purpose of our research is to report the first case of Japanese Danon disease retinopathy and to understand how LAMP2 dysfunction contributes to pathogenesis of retinopathy. 30836785 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 GeneticVariation group BEFREE Eye examinations confirmed the presence of retinopathy in the 2 boys and their maternal aunt, obligate carrier for the S157X mutation in LAMP2. 17296900 2007