Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.300 GeneticVariation disease BEFREE Stepwise multivariate logistic regression analysis identified five genes as optimal predictors of PD: p19 S-phase kinase-associated protein 1A (odds ratio [OR] 0.73; 95% confidence interval [CI] 0.60-0.90), huntingtin interacting protein-2 (OR 1.32; CI 1.08-1.61), aldehyde dehydrogenase family 1 subfamily A1 (OR 0.86; 95% CI 0.75-0.99), 19 S proteasomal protein PSMC4 (OR 0.73; 95% CI 0.60-0.89) and heat shock 70-kDa protein 8 (OR 1.39; 95% CI 1.14-1.70). 22651796 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Tumors with weak (+) HSC70 protein staining were more frequent in the carriers of the polymorphic 1541-1542delGT allele than in the homozygotes of the major allele (20% vs. 6%, P=0.05 by Fisher's exact test). 14991745 2004
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 GeneticVariation disease BEFREE In both cases, mutation was coincident with allelic imbalance, suggesting that HSC70 is a target of somatic mutation and deletion in a fraction of breast carcinomas. 10485459 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 GeneticVariation disease BEFREE HSP70-2 P1/P2, HSPA8 intronic 1541-1542delGT and HIF-1 alpha polymorphisms were not associated with breast cancer risk, as evidenced by the dose-response allele models. 23065205 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 GeneticVariation disease BEFREE HSP70-2 P1/P2, HSPA8 intronic 1541-1542delGT and HIF-1 alpha polymorphisms were not associated with breast cancer risk, as evidenced by the dose-response allele models. 23065205 2012
CUI: C0013421
Disease: Dystonia
Dystonia
0.040 GeneticVariation phenotype BEFREE LAP1 interacts with torsinA, the protein mutated in DYT1-dystonia. 25425325 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.040 GeneticVariation group BEFREE LAP1 interacts with torsinA, the protein mutated in DYT1-dystonia. 25425325 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.030 GeneticVariation disease BEFREE Conditional deletion of LAP1 from striated muscle causes muscular dystrophy; this pathology is worsened in the absence of emerin. 24055652 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 GeneticVariation disease BEFREE Quantitative precipitation assay from total cellular proteins and from lysosomal extracts demonstrated that RA-associated HLA-DRB1 alleles bound Hsp73 better than did HLA-DRB1 alleles that were not associated with RA. 11953969 2002
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation disease LHGDN Association of Met439Thr substitution in heat shock protein 70 gene with postoperative atrial fibrillation and serum HSP70 protein levels. 17934269 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 GeneticVariation disease LHGDN Association analysis of heat shock protein 70 gene polymorphisms in schizophrenia. 18299791 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation group BEFREE To examine whether intragenic, somatic mutations of HSPA8 occur in lung carcinomas, we sequenced its exons 2-8, with adjacent intronic sequences, in a series of DNA samples from non-small-cell lung cancers (NSCLC). 14991745 2004
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation disease BEFREE Genetic variations in HSPA8 gene associated with coronary heart disease risk in a Chinese population. 20300519 2010
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation disease BEFREE The present study aimed to investigate whether certain genetic variants of HSPA8 gene are associated with CHD in Han Chinese people. 20300519 2010
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.010 GeneticVariation disease BEFREE Elevated expression of glucose-regulated protein 78 (GRP78) and heat shock cognate protein (Hsc70) were detected in 100% of HCC and adjacent non-tumorous cirrhotic livers, suggesting that unresolved ER-stress is associated with HCC risk in liver cirrhosis. 28402954 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE Intronic polymorphism (1541-1542delGT) of the constitutive heat shock protein 70 gene has functional significance and shows evidence of association with lung cancer risk. 14991745 2004
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes
0.010 GeneticVariation disease BEFREE Our results showed that FEP patients presented a polymorphism differentiation related to the HSPA8 gene (rs1136141), and a higher frequency of T carriers compared to healthy controls was observed. 24548631 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation disease BEFREE Intronic polymorphism (1541-1542delGT) of the constitutive heat shock protein 70 gene has functional significance and shows evidence of association with lung cancer risk. 14991745 2004
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE Intronic polymorphism (1541-1542delGT) of the constitutive heat shock protein 70 gene has functional significance and shows evidence of association with lung cancer risk. 14991745 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation disease BEFREE Genetic variations in HSPA8 gene associated with coronary heart disease risk in a Chinese population. 20300519 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.310 Biomarker disease CTD_human Diverse proteomic alterations in gastric adenocarcinoma. 15378696 2004
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.310 Biomarker disease BEFREE GKN2 promotes oxidative stress-induced gastric cancer cell apoptosis via the Hsc70 pathway. 31382983 2019
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17
0.310 Biomarker disease BEFREE Previously proteomics study using a cellular model of SCA17 has revealed reduced expression of heat shock 70 kDa protein 5 (HSPA5) and heat shock 70 kDa protein 8 (HSPA8), suggesting that impaired protein folding may contribute to the cell dysfunction of SCA17 (Lee et al., 2009). 22530004 2012
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17
0.310 Biomarker disease CTD_human Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17. 24413982 2014