rs66468541, HSPD1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 13, autosomal dominant
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
0.810 GeneticVariation 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
Spastic paraplegia 13, autosomal dominant
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
0.810 GeneticVariation UNIPROT
Spastic paraplegia 13, autosomal dominant
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
0.810 CausalMutation CLINVAR
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
0.020 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388 2019
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
0.020 GeneticVariation BEFREE We have previously reported the association of a mutation (c.292G > A/p.V98I) in the human HSPD1 gene that encodes the mitochondrial Hsp60 chaperonin with a dominantly inherited form of hereditary spastic paraplegia. 18400758 2008
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
0.010 GeneticVariation BEFREE The hsp60 mutations D3G and V72I impair its ability to fold mitochondrial substrates leading to abnormal ATP synthesis and the development of the MitCHAP-60 and SPG13 neuromuscular degenerative disorders. 31444388 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388 2019