Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 GeneticVariation disease BEFREE Here, we show that ER-to-Golgi transfer of lysosomal enzymes requires CLN8, an ER-associated membrane protein whose loss of function leads to the lysosomal storage disorder, neuronal ceroid lipofuscinosis 8 (a type of Batten disease)<sup>7</sup>. 30397314 2018
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. 10191135 1999
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 7683855 1993
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). 1639406 1992
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.210 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986