Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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