Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.920 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.920 | Biomarker | disease | MGD | Mutations in Hspd1, the gene encoding Hsp60, are associated with two human inherited diseases of the nervous system, a dominantly inherited form of spastic paraplegia (SPG13) and an autosomal recessively inherited white matter disorder termed MitCHAP60 disease. | 23466696 | 2013 | ||||
|
0.920 | Biomarker | disease | BEFREE | Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. | 18571143 | 2008 | ||||
|
0.920 | GeneticVariation | disease | BEFREE | We found that both the c.292G>A RNA transcript and the corresponding Hsp60-(p.Val98Ile) protein were present at comparable levels to their wild-type counterparts in SPG13 patient cells. | 18378094 | 2008 | ||||
|
0.920 | Biomarker | disease | CTD_human | Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. | 18571143 | 2008 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. | 11898127 | 2002 | ||||
|
0.920 | GeneticVariation | disease | UNIPROT | Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. | 11898127 | 2002 | ||||
|
0.920 | GermlineCausalMutation | disease | ORPHANET | [Studies on the magneto-optical rotation of porphyrins, hemins and methemoglobin compounds]. | 1189812 | 1975 | ||||
|
0.920 | CausalMutation | disease | CLINVAR | |||||||
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0.920 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.920 | GeneticVariation | disease | CLINVAR |