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: rs373850074
rs373850074
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE We identified a patient with DCM and EFE, having a mutation in MLP with the residue lysine 69 substituted by arginine (K69R). 14567970 2004
dbSNP: rs2433322
rs2433322
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE We identified 27 polymorphisms in PDLIM5 and found associations between polymorphisms (rs2433320 and rs2433322) in the 5' region of the gene and schizophrenia (p = .004). 16213469 2006
dbSNP: rs2433322
rs2433322
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0036341
Disease:
Schizophrenia
0.020 GeneticVariation BEFREE In addition, high linkage disequilibrium was observed between rs2433320 and rs2433322 (D'=0.880), and haplotypes constructed from the two SNPs were significantly associated with schizophrenia (global P=0.00019, even after strict Bonferroni correction). 18021463 2008
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
dbSNP: rs1329032366
rs1329032366
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C1269955
Disease:
Tumor Cell Invasion
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: C1306460
Disease:
Primary 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
dbSNP: rs200298588
rs200298588
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0598935
Disease:
Tumor Initiation
0.010 GeneticVariation BEFREE Limd1(-/-) mice are predisposed to chemical-induced lung adenocarcinoma and genetic inactivation of Limd1 in mice heterozygous for oncogenic K-Ras(G12D) markedly increased tumor initiation, promotion, and mortality. 19060205 2008
dbSNP: rs200298588
rs200298588
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE Limd1(-/-) mice are predisposed to chemical-induced lung adenocarcinoma and genetic inactivation of Limd1 in mice heterozygous for oncogenic K-Ras(G12D) markedly increased tumor initiation, promotion, and mortality. 19060205 2008
dbSNP: rs2452600
rs2452600
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C1269683
Disease:
Major Depressive Disorder
0.010 GeneticVariation BEFREE Three SNPs (rs10008257, rs2433320 and rs2452600) were identified in the PDLIM5 gene and genotyped in patients diagnosed with recurrent MDD and in matched control subjects. 18197271 2008
dbSNP: rs12500426
rs12500426
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0376358
Disease:
Malignant neoplasm of prostate
A 0.700 GeneticVariation GWASDB Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 19767753 2009
dbSNP: rs12500426
rs12500426
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0600139
Disease:
Prostate carcinoma
0.700 GeneticVariation GWASCAT Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 19767753 2009
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0600139
Disease:
Prostate carcinoma
0.700 GeneticVariation GWASCAT Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 19767753 2009
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C0376358
Disease:
Malignant neoplasm of prostate
T 0.700 GeneticVariation GWASDB Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 19767753 2009
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: rs12500426
rs12500426
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
dbSNP: rs17021918
rs17021918
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
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: 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