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 		0.030 GeneticVariation group BEFREE Mutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts at the age of 4-6 years with a progressive retinopathy leading to blindness. 30621751 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.030 GeneticVariation group BEFREE A multi-institutional case series of 10 patients who presented with isolated nonsyndromic retinal disease and mutations in CLN3. 28542676 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.030 Biomarker group BEFREE Finally, recessive mutations in CLN3 were identified in five retinal degeneration patients, including four RP probands and one cone-rod dystrophy patient, suggesting that CLN3 is a novel non-syndromic retinal disease gene. 24154662 2014