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: C4748428
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. 31504246 2019
CUI: C4748428
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 		0.600 Biomarker disease GENOMICS_ENGLAND Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 30290153 2018
CUI: C4748428
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 		0.600 GeneticVariation disease CLINVAR Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 30290153 2018
CUI: C4748428
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 		0.600 GeneticVariation disease UNIPROT Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. 30290153 2018
CUI: C4748428
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 		0.600 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Our results showed miR-142-3p could function as a tumor suppressor via targeting RAC1/PAK1 pathway in BC, suggesting a potent therapeutic target for BC treatment. 31674013 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE Our results showed miR-142-3p could function as a tumor suppressor via targeting RAC1/PAK1 pathway in BC, suggesting a potent therapeutic target for BC treatment. 31674013 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE These results suggest that mammalian PAK1 does not act as a MAP4K and MLK3-induced direct activation of PAK1 plays a key role in breast cancer tumorigenesis. 30664689 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Our results reveal that JAK2/PAK1 dysregulation inhibits the Stat3 signaling pathway and CSC formation, the PAK1/Stat3 complex regulates <i>IL-6</i> gene expression, PAK1/Stat3 signaling regulates CSC formation, and PAK1 may be an important target for treating breast cancer. 31658701 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Dual targeting of AURKA and PAK1 may be a promising therapeutic strategy for treatment of breast cancer, with a particular effectiveness in luminal and HER2-enriched tumor subtypes. 31254157 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE Our results reveal that JAK2/PAK1 dysregulation inhibits the Stat3 signaling pathway and CSC formation, the PAK1/Stat3 complex regulates <i>IL-6</i> gene expression, PAK1/Stat3 signaling regulates CSC formation, and PAK1 may be an important target for treating breast cancer. 31658701 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 AlteredExpression disease BEFREE These results suggest that mammalian PAK1 does not act as a MAP4K and MLK3-induced direct activation of PAK1 plays a key role in breast cancer tumorigenesis. 30664689 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE Dual targeting of AURKA and PAK1 may be a promising therapeutic strategy for treatment of breast cancer, with a particular effectiveness in luminal and HER2-enriched tumor subtypes. 31254157 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.400 AlteredExpression group BEFREE The serine-threonine kinases Aurora A (AURKA) and p21-activated kinase 1 (PAK1) are frequently overexpressed in breast tumors, with overexpression promoting aggressive breast cancer phenotypes and poor clinical outcomes. 31254157 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE Our results show high Pak1 expression in breast cancer cell lines and in breast tumor tissue. 29274909 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 AlteredExpression disease BEFREE Our results show high Pak1 expression in breast cancer cell lines and in breast tumor tissue. 29274909 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.400 AlteredExpression group BEFREE Our results show high Pak1 expression in breast cancer cell lines and in breast tumor tissue. 29274909 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE In view of this, we obtained the gene expression data-sets of PAK1 from The Cancer Genome Atlas-cBioportal and GeneCards databases and found that 91 PAK1-related genes are associated with breast cancer. 27456030 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE MicroRNA-494 inhibits breast cancer progression by directly targeting PAK1. 28055013 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation disease BEFREE In view of this, we obtained the gene expression data-sets of PAK1 from The Cancer Genome Atlas-cBioportal and GeneCards databases and found that 91 PAK1-related genes are associated with breast cancer. 27456030 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE MicroRNA-494 inhibits breast cancer progression by directly targeting PAK1. 28055013 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE In summary, our results demonstrate that downregulation of ACE2/Ang-(1-7)/Mas axis stimulates breast cancer metastasis through the activation of SOCE and PAK1/NF-κB/Snail1 pathways. 27063099 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Since the initial recognition of a mechanistic role of p21-activated kinase 1 (PAK1) in breast cancer invasion, PAK1 has emerged as one of the widely overexpressed or hyperactivated kinases in human cancer at-large, allowing the PAK family to make in-roads in cancer biology, tumorigenesis, and cancer therapeutics. 27037753 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Because reduced PAK1 activity impaired FA/BRCA function, inhibition of this kinase in PAK1 amplified and/or overexpressing breast cancer cells represents a plausible strategy for expanding the utility of PARP inhibitors to FA/BRCA-proficient cancers. 27740936 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 AlteredExpression disease BEFREE In summary, our results demonstrate that downregulation of ACE2/Ang-(1-7)/Mas axis stimulates breast cancer metastasis through the activation of SOCE and PAK1/NF-κB/Snail1 pathways. 27063099 2016