PXN, paxillin, 5829

N. diseases: 116; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12581983
rs12581983
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0032181
Disease:
Platelet Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE A murine in vivo xenograft model of the most common paxillin mutation (A127T) showed increased cell proliferation and invasive tumour growth, establishing an important role for paxillin in the development of lung cancer. 21045234 2011
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE A murine in vivo xenograft model of the most common paxillin mutation (A127T) showed increased cell proliferation and invasive tumour growth, establishing an important role for paxillin in the development of lung cancer. 21045234 2011
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE A murine in vivo xenograft model of the most common paxillin mutation (A127T) showed increased cell proliferation and invasive tumour growth, establishing an important role for paxillin in the development of lung cancer. 21045234 2011
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 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: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0684249
Disease:
Carcinoma of lung
0.020 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: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 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: rs1428779969
rs1428779969
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE LPXN may facilitate bladder cancer progression by upregulating the expression of S100P via PI3K/AKT pathway. 29975926 2018
dbSNP: rs1428779969
rs1428779969
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE LPXN may facilitate bladder cancer progression by upregulating the expression of S100P via PI3K/AKT pathway. 29975926 2018
dbSNP: rs1428779969
rs1428779969
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE LPXN may facilitate bladder cancer progression by upregulating the expression of S100P via PI3K/AKT pathway. 29975926 2018
dbSNP: rs778384980
rs778384980
Entrez Id: 5829;100506649
Gene Symbol: PXN;PXN-AS1
PXN;PXN-AS1
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE Depletion of RacGAP1 with RacGAP1-targeting siRNA or overexpression of RacGAP1 mutant (T249A) attenuated melanoma cell transendothelial migration and concomitant changes of adherens junctions. 25475728 2015
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0079731
Disease:
B-Cell Lymphomas
0.010 GeneticVariation BEFREE Among the mutations investigated, we previously found that PXN variant A127T in lung cancer cells enhanced cell proliferation and focal adhesion formation and colocalized with the anti-apoptotic protein B Cell Lymphoma 2 (BCL-2), which is known to localize to the mitochondria, among other sites. 23792636 2013
dbSNP: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
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: rs78768932
rs78768932
Entrez Id: 5829
Gene Symbol: PXN
PXN
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: rs1360583020
rs1360583020
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0149925
Disease:
Small cell carcinoma of lung
0.010 GeneticVariation BEFREE Also, there are one Sema domain missense mutation (E168D in SCLC tumor sample T5), two-base-pair insertional mutations (IVS13- (52-53)insCT in both SCLC tumor samples T26 and T27) within the pre-JM intron 13, as well as an alternative transcript involving exon 10 (H128 cell line). c-MET receptors are expressed at various levels among the 10 SCLC cell lines studied (high expression: H69, H345, H510, and H526; medium-expression: H128 and H146; and low/no-expression: H82, H209, H249, and H446). 14559814 2003
dbSNP: rs1360583020
rs1360583020
Entrez Id: 5829
Gene Symbol: PXN
PXN
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Also, there are one Sema domain missense mutation (E168D in SCLC tumor sample T5), two-base-pair insertional mutations (IVS13- (52-53)insCT in both SCLC tumor samples T26 and T27) within the pre-JM intron 13, as well as an alternative transcript involving exon 10 (H128 cell line). c-MET receptors are expressed at various levels among the 10 SCLC cell lines studied (high expression: H69, H345, H510, and H526; medium-expression: H128 and H146; and low/no-expression: H82, H209, H249, and H446). 14559814 2003