RPS6KA1, ribosomal protein S6 kinase A1, 6195

N. diseases: 68; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
0.300 Biomarker disease CTD_human L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis. 29109170 2018
Alcohol Related Neurodevelopmental Disorder
0.300 Biomarker disease CTD_human L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis. 29109170 2018
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
0.300 Biomarker group CTD_human L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis. 29109170 2018
CUI: C3146244
Disease: Alcohol Related Birth Defect
Alcohol Related Birth Defect
0.300 Biomarker disease CTD_human L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis. 29109170 2018
CUI: C3661483
Disease: Partial Fetal Alcohol Syndrome
Partial Fetal Alcohol Syndrome
0.300 Biomarker disease CTD_human L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis. 29109170 2018
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome
0.300 Biomarker disease CTD_human Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes. 26551670 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.110 Biomarker disease BEFREE Thus, RSK1 represents a promising target, particularly in combination with PIM or PI3K, as well as anti-apoptotic Bcl-2 family members, for novel therapeutic strategies against therapy-resistant FLT3-ITD-positive AML. 31756944 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.110 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population. 30108155 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 Biomarker group BEFREE We found that RSK1 promoted tumor growth and metastasis in vivo. 29498411 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 Biomarker group BEFREE Finally, <i>in vivo</i> studies revealed that the hormone activates RSK in xenografts tumor. 28385776 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 AlteredExpression group BEFREE Mechanistically, downregulation of HERV-K blocked expression of tumor-associated genes that included Ras, p-RSK, and p-ERK. 27557521 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 Biomarker group BEFREE The p90RSK has an essential role in promoting tumor growth and proliferation in non-small cell lung cancer (NSCLC). 27236820 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 Biomarker group BEFREE The K17-hnRNP K partnership is regulated by the ser/thr kinase RSK and required for CXCR3-dependent tumor cell growth and invasion. 25713416 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 Biomarker group BEFREE Several studies implicate the RSK pathway as being pivotal for the growth and proliferation of CSCs, which are postulated to drive tumor relapse. 26011941 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 AlteredExpression group BEFREE In paraffin-embedded, formalin-fixed tissues from core needle biopsy tissues from 112 patients, positive phospho-p90RSK expression was associated with greater tumor shrinkage and smaller post-chemotherapy tumor size. 23216670 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 AlteredExpression group BEFREE While in lung and other tumors RSK may control apoptosis via estrogen-mediated regulation of mitochondrial integrity. 20045011 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 PosttranslationalModification group BEFREE RSK1 phosphorylation of Ser-1798 inhibits the tumor suppressor function of the tuberin/hamartin complex, resulting in increased mTOR signaling to S6K1. 15342917 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 Biomarker disease BEFREE RSK1 promotes murine breast cancer growth and metastasis. 29498411 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 AlteredExpression group BEFREE These findings establish RSK2 as an obligate participant of ERα-mediated transcriptional programs, tumorigenesis, and divergent patient responses to antiestrogen therapies.<b>Significance:</b> Nuclear accumulation of active RSK drives a protumorigenic transcriptional program and renders ER<sup>+</sup> breast cancer susceptible to endocrine-based therapies.<i>Cancer Res; 78(8); 2014-25.©2018 AACR</i>. 29351904 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.080 Biomarker disease BEFREE RSK1 promotes murine breast cancer growth and metastasis. 29498411 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.080 Biomarker group BEFREE Although the RSKs have a high degree of sequence homology, their functional differences in cancer are of great interest. 28718440 2017