| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.400 | CausalMutation | disease | CLINVAR | Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. | 23374165 | 2013 | ||||
|
0.400 | CausalMutation | disease | CLINVAR | Clinical exome sequencing for genetic identification of rare Mendelian disorders. | 25326637 | 2014 | ||||
|
0.400 | CausalMutation | disease | CLINVAR | The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. | 10861296 | 2000 | ||||
|
0.400 | CausalMutation | disease | CLINVAR | Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. | 19807737 | 2010 | ||||
|
0.400 | GeneticVariation | disease | CLINVAR | |||||||
|
0.400 | CausalMutation | disease | CLINVAR | Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. | 15024724 | 2004 | ||||
|
0.400 | CausalMutation | disease | CLINVAR | Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. | 15160397 | 2004 | ||||
|
0.400 | Biomarker | disease | MGD | Retinal degeneration in motor neuron degeneration (mnd) mutant mice. | 8282051 | 1993 | ||||
|
0.400 | Biomarker | disease | MGD | Autosomal dominance in a late-onset motor neuron disease in the mouse. | 3783318 | 1986 | ||||
|
0.400 | Biomarker | disease | MGD | Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). | 7683855 | 1993 | ||||
|
0.400 | Biomarker | disease | MGD | Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). | 1639406 | 1992 | ||||
|
0.400 | Biomarker | disease | MGD | An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. | 10191135 | 1999 |