Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751478142
rs751478142
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
0.810 GeneticVariation BEFREE We used differential scanning fluorimetry (DSF), biolayer interferometry, X-ray crystallography, ATP hydrolysis assays, and Rosetta docking simulations to study the structural and functional consequences of the EVEN-PLUS syndrome-associated R126W and Y128C mutations within the mortalin-NBD. 30933555 2019
dbSNP: rs765368797
rs765368797
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
0.810 GeneticVariation BEFREE We used differential scanning fluorimetry (DSF), biolayer interferometry, X-ray crystallography, ATP hydrolysis assays, and Rosetta docking simulations to study the structural and functional consequences of the EVEN-PLUS syndrome-associated R126W and Y128C mutations within the mortalin-NBD. 30933555 2019
dbSNP: rs765368797
rs765368797
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
0.810 GeneticVariation UNIPROT Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
dbSNP: rs751478142
rs751478142
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
0.810 GeneticVariation UNIPROT
dbSNP: rs751478142
rs751478142
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
A 0.810 CausalMutation CLINVAR
dbSNP: rs765368797
rs765368797
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
C 0.810 CausalMutation CLINVAR
dbSNP: rs763817505
rs763817505
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C4225428
Disease:
ANEMIA, SIDEROBLASTIC, 4
C 0.700 CausalMutation CLINVAR
dbSNP: rs768283289
rs768283289
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9
CUI: C4225428
Disease:
ANEMIA, SIDEROBLASTIC, 4
0.700 GeneticVariation UNIPROT
dbSNP: rs772570880
rs772570880
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9
CUI: C4225180
Disease:
EVEN-PLUS SYNDROME
C 0.700 CausalMutation CLINVAR
dbSNP: rs869312659
rs869312659
Entrez Id: 3313;109617013
Gene Symbol: HSPA9;SNORD63B
HSPA9;SNORD63B
CUI: C4225428
Disease:
ANEMIA, SIDEROBLASTIC, 4
C 0.700 CausalMutation CLINVAR
dbSNP: rs201894482
rs201894482
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE We demonstrate that mot-1, R126W, or P509S mutant (i) lacks mot-2 functions involved in carcinogenesis, such as p53 inactivation and hTERT/hnRNP-K (heterogeneous nuclear ribonucleoprotein K) activation; (ii) causes increased level of endogenous oxidative stress; (iii) results in decreased tolerance of cells to exogenous oxidative stress; and (iv) shows differential binding and impact on the RPL-7 and EF-1α proteins. 25645922 2015
dbSNP: rs751478142
rs751478142
Entrez Id: 3313;105379193
Gene Symbol: HSPA9;LOC105379193
HSPA9;LOC105379193
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE We demonstrate that mot-1, R126W, or P509S mutant (i) lacks mot-2 functions involved in carcinogenesis, such as p53 inactivation and hTERT/hnRNP-K (heterogeneous nuclear ribonucleoprotein K) activation; (ii) causes increased level of endogenous oxidative stress; (iii) results in decreased tolerance of cells to exogenous oxidative stress; and (iv) shows differential binding and impact on the RPL-7 and EF-1α proteins. 25645922 2015