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
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease GENOMICS_ENGLAND Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism. 30083362 2018
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 GeneticVariation disease BEFREE The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease. 27405012 2016
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 GeneticVariation disease BEFREE This study constitutes a first finding concerning the relationship between disease-associated HSPD1 mutation and mitochondrial dynamics, which may be similar to the relationship between another disease-associated HSPD1 mutation (MitCHAP-60 disease) and aberrant mitochondrial dynamics. 25957474 2015
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease BEFREE The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer. 19706612 2009
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 GermlineCausalMutation disease ORPHANET The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. 18571143 2008
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease CTD_human The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. 18571143 2008
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 GeneticVariation disease UNIPROT The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. 18571143 2008
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 CausalMutation disease CLINVAR
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		0.500 Biomarker phenotype CTD_human A proteomic analysis of liver mitochondria during acute endotoxemia. 16741687 2006