Gene: STUB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease BEFREE Spinocerebellar ataxia autosomal recessive 16 (SCAR16) is caused by coding mutations in STUB1, a gene that encodes the multifunctional enzyme CHIP (C terminus of HSC70-interacting protein). 31619515 2019
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 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
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 Biomarker disease GENOMICS_ENGLAND Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). 30381368 2018
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease BEFREE Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (OMIM #615768), carrying compound heterozygous mutations (c.355C>T, c.880A>T) in STUB1. 29679845 2018
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 Biomarker disease MGD CHIP Regulates Aquaporin-2 Quality Control and Body Water Homeostasis. 29242247 2018
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease BEFREE Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (<i>STUB1</i>) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus of Hsc70-interacting protein (CHIP). 28396517 2017
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 Biomarker disease MGD SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE. 28593200 2016
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease UNIPROT Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. 24742043 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GermlineCausalMutation disease ORPHANET Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. 24742043 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease UNIPROT STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. 25258038 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease UNIPROT Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. 24719489 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GermlineCausalMutation disease ORPHANET Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. 24113144 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GermlineCausalMutation disease ORPHANET STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. 25258038 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease UNIPROT Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. 24113144 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 Biomarker disease GENOMICS_ENGLAND Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. 24312598 2013
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GermlineCausalMutation disease ORPHANET Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. 24312598 2013
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease UNIPROT Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. 24312598 2013
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 Biomarker disease MGD CHIP activates HSF1 and confers protection against apoptosis and cellular stress. 14532117 2003
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 CausalMutation disease CLINVAR
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.940 GeneticVariation disease CLINVAR