Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
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
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C1854467
Disease:
Spastic paraplegia 13, autosomal dominant
0.810 GeneticVariation UNIPROT
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C1854467
Disease:
Spastic paraplegia 13, autosomal dominant
T 0.810 CausalMutation CLINVAR
dbSNP: rs72466451
rs72466451
Entrez Id: 3329;3336;100529241
Gene Symbol: HSPD1;HSPE1;HSPE1-MOB4
HSPD1;HSPE1;HSPE1-MOB4
CUI: C2677109
Disease:
Leukodystrophy, Hypomyelinating, 4
0.800 GeneticVariation UNIPROT
dbSNP: rs72466451
rs72466451
Entrez Id: 3329;3336;100529241
Gene Symbol: HSPD1;HSPE1;HSPE1-MOB4
HSPD1;HSPE1;HSPE1-MOB4
CUI: C2677109
Disease:
Leukodystrophy, Hypomyelinating, 4
C 0.800 CausalMutation CLINVAR
dbSNP: rs17730989
rs17730989
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C1527304
Disease:
Allergic Reaction
C 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
dbSNP: rs788016
rs788016
Entrez Id: 3329;106635540
Gene Symbol: HSPD1;SNORA105B
HSPD1;SNORA105B
CUI: C1527304
Disease:
Allergic Reaction
A 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
dbSNP: rs863224878
rs863224878
Entrez Id: 3329;106635540
Gene Symbol: HSPD1;SNORA105B
HSPD1;SNORA105B
CUI: C1854467
Disease:
Spastic paraplegia 13, autosomal dominant
A 0.700 GeneticVariation CLINVAR
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
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
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
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
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
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
dbSNP: rs66468541
rs66468541
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
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
dbSNP: rs2605039
rs2605039
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that the</span> contribution of diabetes to breast</span> cancer risk might be modified by IL-6 rs1800796 and HSPD1 rs2605039. 28591216 2017
dbSNP: rs2605039
rs2605039
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Our results suggest that the contribution of diabetes to breast cancer risk might be modified by IL-6 rs1800796 and HSPD1 rs2605039. 28591216 2017
dbSNP: rs2605039
rs2605039
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Our results suggest that the contribution of diabetes to breast cancer risk might be modified by IL-6 rs1800796 and HSPD1 rs2605039. 28591216 2017
dbSNP: rs2605039
rs2605039
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results suggest that the</span> contribution of diabetes to breast</span> cancer risk might be modified by IL-6 rs1800796 and HSPD1 rs2605039. 28591216 2017
dbSNP: rs72466451
rs72466451
Entrez Id: 3329;3336;100529241
Gene Symbol: HSPD1;HSPE1;HSPE1-MOB4
HSPD1;HSPE1;HSPE1-MOB4
CUI: C0038644
Disease:
Sudden infant death syndrome
0.010 GeneticVariation BEFREE The results suggest that the pathogenic variant of rs72466451 may play a role in a subgroup of SIDS cases with impaired Hsp60-mediated stress response. 23823174 2013
dbSNP: rs370664935
rs370664935
Entrez Id: 3329;3336;100529241
Gene Symbol: HSPD1;HSPE1;HSPE1-MOB4
HSPD1;HSPE1;HSPE1-MOB4
CUI: C0745287
Disease:
infertility tubal factor
0.010 GeneticVariation BEFREE To investigate the genetic basis of chlamydial TFI and various manifestations of tubal damage, we studied functional polymorphisms in selected cytokine genes (IL-10 -1082 A/G, -819 T/C, and -592 A/C; IFN-gamma +874 T/A; TNF-alpha -308 G/A; TGF-beta1 codons 10 T/C and 25 G/C; and IL-6 -174 G/C) in 114 women with laparoscopically verified TFI (hereafter known as "cases") and in 176 controls. 19358670 2009
dbSNP: rs2340690
rs2340690
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE We observed a significant RA association for the C/C genotype of rs2340690 in the first sample. 17925998 2007