Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856453
Disease: Mild thrombocytopenia
Mild thrombocytopenia
0.300 Biomarker phenotype GENOMICS_ENGLAND Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. 26224645 2015
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
0.300 FusionGene disease ORPHANET The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. 19357394 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE Furthermore, depletion of MRTF-A abolished the upregulation of COL1A1 in response to the TGF-β or Wnt signaling, indicating the importance of MRTF-A in the synthesis of type I collagen in breast cancer. 29807221 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Furthermore, depletion of MRTF-A abolished the upregulation of COL1A1 in response to the TGF-β or Wnt signaling, indicating the importance of MRTF-A in the synthesis of type I collagen in breast cancer. 29807221 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 GeneticVariation disease BEFREE The objective of this study was to investigate whether the genetic polymorphism rs12665607 of ESR1, rs10995190 of ZNF365, rs3817198 of LSP1 and rs17001868 of SGSM3/MKL1 are associated with the development of breast cancer (BC) in the Chinese women. 27432265 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE miR-219a-5p inhibits breast cancer cell migration and epithelial-mesenchymal transition by targeting myocardin-related transcription factor A. 29077787 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE Our data thus provide important and novel insights into MRTF-A-miR-206-WDR1 form feedback loop to regulate breast cancer cell migration. 28822708 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE These results demonstrated a novel pathway through which miR-93-5p regulates MKL-1 and STAT3 to affect EMT controlling breast cancer cell migration. 28499590 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 AlteredExpression disease BEFREE MKL1 and SRF were further demonstrated to promote the expression of <i>IL11</i>, which is essential for miR-206's function in inhibiting both invasion and stemness of breast cancer.<b>Conclusions:</b> The identification of the miR-206/TWF1/MKL1-SRF/IL11 signaling pathway sheds lights on the understanding of breast cancer initiation and progression, unveils new therapeutic targets, and facilitates innovative drug development to control cancer and block metastasis.<i></i>. 27435395 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE miR-219a-5p inhibits breast cancer cell migration and epithelial-mesenchymal transition by targeting myocardin-related transcription factor A. 29077787 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE The objective of this study was to investigate whether the genetic polymorphism rs12665607 of ESR1, rs10995190 of ZNF365, rs3817198 of LSP1 and rs17001868 of SGSM3/MKL1 are associated with the development of breast cancer (BC) in the Chinese women. 27432265 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE MKL1 and SRF were further demonstrated to promote the expression of <i>IL11</i>, which is essential for miR-206's function in inhibiting both invasion and stemness of breast cancer.<b>Conclusions:</b> The identification of the miR-206/TWF1/MKL1-SRF/IL11 signaling pathway sheds lights on the understanding of breast cancer initiation and progression, unveils new therapeutic targets, and facilitates innovative drug development to control cancer and block metastasis.<i></i>. 27435395 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Our data thus provide important and novel insights into MRTF-A-miR-206-WDR1 form feedback loop to regulate breast cancer cell migration. 28822708 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE These results demonstrated a novel pathway through which miR-93-5p regulates MKL-1 and STAT3 to affect EMT controlling breast cancer cell migration. 28499590 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 GeneticVariation disease BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE These results demonstrated the involvement of p300 in the MRTF-A mediated gene regulation and breast cancer cell migration. 26476216 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE These results demonstrated the involvement of p300 in the MRTF-A mediated gene regulation and breast cancer cell migration. 26476216 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 AlteredExpression disease BEFREE This study highlights a crucial role for the transcriptional regulator Mkl1 and its SAP domain during breast cancer progression. 24495796 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE But the exact molecular mechanism on metastasis is still not fully understood; we now report that both MRTF-A and STAT3 play important role in breast cancer migration of MDA-MB-231 cells. 25038455 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.200 Biomarker disease BEFREE Activation of the MKL1/actin signaling pathway induces hormonal escape in estrogen-responsive breast cancer cell lines. 24721635 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Activation of the MKL1/actin signaling pathway induces hormonal escape in estrogen-responsive breast cancer cell lines. 24721635 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE This study highlights a crucial role for the transcriptional regulator Mkl1 and its SAP domain during breast cancer progression. 24495796 2014