| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.370 | GeneticVariation | disease | BEFREE | SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. | 31741143 | 2020 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. | 31571321 | 2020 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Interestingly, primary fibroblasts from autosomal recessive spinocerebellar ataxia 16 (SCAR16) patients carrying germline inactivating mutations of CHIP show a dramatic dysregulation of PKA signaling. | 31189917 | 2019 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T > C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). | 30058754 | 2018 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | CHIP plays a protective role in mouse models of neurodegenerative disease, and in humans, mutations in CHIP cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16), a fatal neurodegenerative disease characterized by truncal and limb ataxia that results in gait instability. | 29317501 | 2018 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | <i>In vitro</i> characterization of six <i>STUB1</i> variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. | 28396517 | 2017 | ||||
|
0.370 | Biomarker | disease | LHGDN | CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. | 16831871 | 2006 | ||||
|
0.370 | Biomarker | disease | CTD_human |