PAK1, p21 (RAC1) activated kinase 1, 5058

N. diseases: 221; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.070 GeneticVariation disease BEFREE We used NSCLC clinical specimens to examine the correlation among KRAS mutations (codon 12, 13 and 61); PAK1/Crk axis activation [p-PAK1(Thr423), p-Crk(Ser41)]; and adhesion molecules expression by immunohistochemistry. 25956913 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE We then down-regulated Pak1 by using small interfering RNA to knock down Pak1 in two glioblastoma cell lines to determine whether Pak1 contributed to cell viability and invasion. 18006760 2007
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.030 Biomarker disease BEFREE We then down-regulated Pak1 by using small interfering RNA to knock down Pak1 in two glioblastoma cell lines to determine whether Pak1 contributed to cell viability and invasion. 18006760 2007
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 Biomarker disease BEFREE We then down-regulated Pak1 by using small interfering RNA to knock down Pak1 in two glioblastoma cell lines to determine whether Pak1 contributed to cell viability and invasion. 18006760 2007
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.030 Biomarker disease BEFREE We then down-regulated Pak1 by using small interfering RNA to knock down Pak1 in two glioblastoma cell lines to determine whether Pak1 contributed to cell viability and invasion. 18006760 2007
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.030 Biomarker disease BEFREE We then down-regulated Pak1 by using small interfering RNA to knock down Pak1 in two glioblastoma cell lines to determine whether Pak1 contributed to cell viability and invasion. 18006760 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE We show that PAK1 and PAK2 are the critical isoforms in a BCR/ABL1<sup>+</sup> haematopoietic malignancy. 28707321 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE We show that PAK1 and PAK2 are the critical isoforms in a BCR/ABL1<sup>+</sup> haematopoietic malignancy. 28707321 2017
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 GeneticVariation phenotype BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.020 GeneticVariation disease BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE We report the de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait. 30290153 2018
CUI: C1708566
Disease: Invasive Prostate Carcinoma
Invasive Prostate Carcinoma 		0.010 AlteredExpression disease BEFREE We report here that highly invasive prostate cancer cells express significantly higher levels of Pak1 protein compared with non-invasive prostate cancer cells. 23258534 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 Biomarker disease BEFREE We questioned the mechanism(s) by which PAK1 deficiency potentially contributes to increased susceptibility to type 2 diabetes. 27394663 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 AlteredExpression phenotype BEFREE We propose that inhibition of PAK1 expression by 5-ASA can impede with neoplastic progression in colorectal carcinogenesis. 23146664 2013
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.080 AlteredExpression phenotype BEFREE We propose that inhibition of PAK1 expression by 5-ASA can impede with neoplastic progression in colorectal carcinogenesis. 23146664 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.040 Biomarker disease BEFREE We previously reported overactivation and overexpression of p21-activated kinases (PAKs) in aggressive human thyroid cancer invasive fronts, and determined that PAK1 functionally regulated thyroid cancer cell migration. 31146260 2019
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.030 Biomarker disease BEFREE We previously reported overactivation and overexpression of p21-activated kinases (PAKs) in aggressive human thyroid cancer invasive fronts, and determined that PAK1 functionally regulated thyroid cancer cell migration. 31146260 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.030 Biomarker disease BEFREE We previously reported overactivation and overexpression of p21-activated kinases (PAKs) in aggressive human thyroid cancer invasive fronts, and determined that PAK1 functionally regulated thyroid cancer cell migration. 31146260 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.080 AlteredExpression disease BEFREE We performed immunohistochemical analysis of PAK1 levels in HCC samples from patients. 22484303 2012
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.050 Biomarker disease BEFREE We have previously shown that, PAK1, the Rac/CDC42-dependent Ser/Thr kinase, is essential for RAS/estrogen-induced transformation and neurofibromatosis (NF). 16540233 2007
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.040 Biomarker group BEFREE We have previously shown that, PAK1, the Rac/CDC42-dependent Ser/Thr kinase, is essential for RAS/estrogen-induced transformation and neurofibromatosis (NF). 16540233 2007
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.020 Biomarker group BEFREE We have investigated the role of PAK1 in the premalignant progression of the MCF10 series of human breast epithelial cell lines. 18392133 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE We further show that two intellectual disability mutations impair dimerization with PAK1. 22815483 2012