Disease: Spastic paraplegia 13, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		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
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 GeneticVariation disease UNIPROT Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 GermlineCausalMutation disease ORPHANET [Studies on the magneto-optical rotation of porphyrins, hemins and methemoglobin compounds]. 1189812 1975
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 CausalMutation disease CLINVAR
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 GeneticVariation disease CLINVAR