Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 Biomarker phenotype BEFREE Onset and course of vision loss was similar in patients with protracted CLN3. 29392585 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 Biomarker phenotype BEFREE Our findings indicate that exposure to specific light conditions accelerates CLN3-dependent retinal degeneration, and that immunomodulation by minocycline could be a possible treatment option to delay vision loss in jNCL patients.This article has an associated First Person interview with the first author of the paper. 30042155 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 Biomarker phenotype BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a childhood neurodegenerative disease with early-onset, severe central vision loss. 27400765 2016
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 Biomarker phenotype BEFREE Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) presents with progressive vision loss at 4-7 years of age. 24547931 2015
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 Biomarker phenotype BEFREE Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination. 16087292 2005
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.060 AlteredExpression phenotype BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a pediatric neurodegenerative disease characterized by vision loss, seizure activity, cognitive decline, and premature death. 12366726 2002