PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11097432
rs11097432
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Of the 25 SNPs, 5 SNPs showed associations with both AD in the SAGE sample and T2D in the Marshfield sample (top SNP rs11097432 with p = 0.00107 for T2D and p = 0.0483 for AD) while 6 SNPs showed associations with both AD in the SAGE sample and hypertension in the Marshfield sample (top SNP rs12500426 with p = 0.0119 for hypertension and p = 1.51 × 10<sup>-3</sup> for AD). 27693979 2017
dbSNP: rs11097432
rs11097432
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Of the 25 SNPs, 5 SNPs showed associations with both AD in the SAGE sample and T2D in the Marshfield sample (top SNP rs11097432 with p = 0.00107 for T2D and p = 0.0483 for AD) while 6 SNPs showed associations with both AD in the SAGE sample and hypertension in the Marshfield sample (top SNP rs12500426 with p = 0.0119 for hypertension and p = 1.51 × 10<sup>-3</sup> for AD). 27693979 2017
dbSNP: rs12500426
rs12500426
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Of the 25 SNPs, 5 SNPs showed associations with both AD in the SAGE sample and T2D in the Marshfield sample (top SNP rs11097432 with p = 0.00107 for T2D and p = 0.0483 for AD) while 6 SNPs showed associations with both AD in the SAGE sample and hypertension in the Marshfield sample (top SNP rs12500426 with p = 0.0119 for hypertension and p = 1.51 × 10<sup>-3</sup> for AD). 27693979 2017
dbSNP: rs12500426
rs12500426
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Of the 25 SNPs, 5 SNPs showed associations with both AD in the SAGE sample and T2D in the Marshfield sample (top SNP rs11097432 with p = 0.00107 for T2D and p = 0.0483 for AD) while 6 SNPs showed associations with both AD in the SAGE sample and hypertension in the Marshfield sample (top SNP rs12500426 with p = 0.0119 for hypertension and p = 1.51 × 10<sup>-3</sup> for AD). 27693979 2017
dbSNP: rs6532496
rs6532496
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE SNP (rs6532496) showed significant interaction with alcohol consumption for hypertension. 27693979 2017
dbSNP: rs368434732
rs368434732
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C2678065
Disease:
Myofibrillar Myopathy
0.010 GeneticVariation BEFREE The c.626 C > T (p.P209L) mutation in the BAG3 gene has been described as causative of a subtype of MFM. 27443559 2016
dbSNP: rs11097431
rs11097431
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE However, no association was detected between the rs11097431 polymorphism either with bipolar disorder or with schizophrenia. 24064681 2013
dbSNP: rs11097431
rs11097431
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE However, no association was detected between the rs11097431 polymorphism either with bipolar disorder or with schizophrenia. 24064681 2013
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Four SNPs were associated with aggressive PrCa, while three other SNPs showed potential interactions for PrCa by family history of PrCa (rs8102476; 19q13), lung cancer (rs17021918; 4q22), and breast cancer (rs10896449; 11q13). 23573233 2013
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Four SNPs were associated with aggressive PrCa, while three other SNPs showed potential interactions for PrCa by family history of PrCa (rs8102476; 19q13), lung cancer (rs17021918; 4q22), and breast cancer (rs10896449; 11q13). 23573233 2013
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Four SNPs were associated with aggressive PrCa, while three other SNPs showed potential interactions for PrCa by family history of PrCa (rs8102476; 19q13), lung cancer (rs17021918; 4q22), and breast cancer (rs10896449; 11q13). 23573233 2013
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Four SNPs were associated with aggressive PrCa, while three other SNPs showed potential interactions for PrCa by family history of PrCa (rs8102476; 19q13), lung cancer (rs17021918; 4q22), and breast cancer (rs10896449; 11q13). 23573233 2013
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Four SNPs were associated with aggressive PrCa, while three other SNPs showed potential interactions for PrCa by family history of PrCa (rs8102476; 19q13), lung cancer (rs17021918; 4q22), and breast cancer (rs10896449; 11q13). 23573233 2013
dbSNP: rs753495682
rs753495682
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0936223
Disease:
Metastatic Prostate Carcinoma
0.010 GeneticVariation BEFREE We also show here that overexpression of PAK4 harbouring a somatic mutation, E329K, increased the HGF-driven motility of metastatic prostate carcinoma cells. 22689056 2013
dbSNP: rs7690296
rs7690296
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Therefore, it can be deduced that the nonsynonymous rs7690296</span> polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia. 24064681 2013
dbSNP: rs1318234609
rs1318234609
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0242343
Disease:
Panhypopituitarism
0.010 GeneticVariation BEFREE A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. 19856252 2010
dbSNP: rs767864210
rs767864210
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C1623038
Disease:
Cirrhosis
0.010 GeneticVariation BEFREE Mutated nucleotides of the Enh1/X-promoter, especially G1053A and G1229A mutations in the HBV subgenotype C2 of patients with cirrhosis, can be risk factors for hepatocarcinogenesis, and this might be due to an increase in the HBx levels through the transactivation of the Enh1/X-promoter. 20550526 2010
dbSNP: rs767864210
rs767864210
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE Mutated nucleotides of the Enh1/X-promoter, especially G1053A and G1229A mutations in the HBV subgenotype C2 of patients with cirrhosis, can be risk factors for hepatocarcinogenesis, and this might be due to an increase in the HBx levels through the transactivation of the Enh1/X-promoter. 20550526 2010
dbSNP: rs767864210
rs767864210
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The sites that showed higher mutation rates in the HCC group were G1053A and G1229A, which were found to be independent risk factors through multiple logistic analysis (P < 0.05). 20550526 2010
dbSNP: rs2433322
rs2433322
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0006111
Disease:
Brain Diseases
0.010 GeneticVariation BEFREE Our genetic association study only offered evidence for susceptibility of PDLIM5 to bipolar disorder, but the positive SNP rs2433322 could not indicate a direct cause of this complicated brain disorder. 19448850 2009
dbSNP: rs2433322
rs2433322
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE We conducted a case-control study of 4 single-nucleotide polymorphisms (SNPs) of PDLIM5 that have been reported to be significantly associated with bipolar disorder in the Japanese and Chinese population: rs10008257, rs2433320, rs2433322 and rs2438146. 19448850 2009
dbSNP: rs2438146
rs2438146
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE We conducted a case-control study of 4 single-nucleotide polymorphisms (SNPs) of PDLIM5 that have been reported to be significantly associated with bipolar disorder in the Japanese and Chinese population: rs10008257, rs2433320, rs2433322 and rs2438146. 19448850 2009
dbSNP: rs1329032366
rs1329032366
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The most frequent point mutation (A127T) enhanced lung cancer cell growth, colony formation, focal adhesion formation, and colocalized with Bcl-2 in vitro. 18172305 2008
dbSNP: rs1329032366
rs1329032366
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE A murine in vivo xenograft model of A127T paxillin showed an increase in tumor growth, cell proliferation, and invasion. 18172305 2008
dbSNP: rs1329032366
rs1329032366
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The most frequent point mutation (A127T) enhanced lung cancer cell growth, colony formation, focal adhesion formation, and colocalized with Bcl-2 in vitro. 18172305 2008