Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.940 | GeneticVariation | disease | UNIPROT | Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. | 15024724 | 2004 | ||||
|
0.940 | Biomarker | disease | BEFREE | Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8). | 11332769 | 2001 | ||||
|
0.940 | GeneticVariation | disease | CLINVAR | The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. | 10861296 | 2000 | ||||
|
0.940 | Biomarker | disease | MGD | An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. | 10191135 | 1999 | ||||
|
0.940 | Biomarker | disease | GENOMICS_ENGLAND | The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. | 10508524 | 1999 | ||||
|
0.940 | Biomarker | disease | MGD | Retinal degeneration in motor neuron degeneration (mnd) mutant mice. | 8282051 | 1993 | ||||
|
0.940 | Biomarker | disease | MGD | Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). | 7683855 | 1993 | ||||
|
0.940 | Biomarker | disease | MGD | Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). | 1639406 | 1992 | ||||
|
0.940 | Biomarker | disease | MGD | Autosomal dominance in a late-onset motor neuron disease in the mouse. | 3783318 | 1986 | ||||
|
0.940 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.940 | Biomarker | disease | CTD_human | |||||||
|
0.940 | CausalMutation | disease | CLINVAR |