Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | Biomarker | phenotype | BEFREE | A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. | 30548255 | 2019 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1. | 29246094 | 2018 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol. | 29429782 | 2018 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | We identified both atypical presentation of known ataxia genes (ATM, NPC1) and mutations in genes very rarely associated with ataxia (ERCC4, HSD17B4). | 27528516 | 2016 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. | 26338816 | 2015 | ||||
|
0.460 | Biomarker | phenotype | CTD_human | An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. | 21273508 | 2011 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | In the mouse model of NPC and in the early onset form of human NPC, Purkinje neurons are among the first neurological targets, suffering stunted growth during postnatal development and dying, leading to ataxia. | 10482798 | 1999 | ||||
|
0.460 | Biomarker | phenotype | HPO |