Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.110 AlteredExpression disease BEFREE We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary antibody-deficient siblings presenting with recurrent severe respiratory tract infections and bronchiectasis. 30521495 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.110 Biomarker disease HPO
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.100 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 Biomarker disease BEFREE Overall, our data showed that Six1 is essential for the progression of MLL-AF9-induced AML via maintaining the pool of LSC. 31050834 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 Biomarker disease BEFREE Here, we used a conditional knockout Hif-1α mouse model together with a standard chemotherapy regimen to evaluate LSC targeting in AML. 30595549 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 Biomarker disease BEFREE Hence, CD9 could be a very relevant marker for minimal residual disease (MRD) monitoring in AML based on LSC targeting. 30740913 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 Biomarker disease BEFREE METTL14 is required for development and maintenance of AML and self-renewal of leukemia stem/initiation cells (LSCs/LICs). 29290617 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 AlteredExpression disease BEFREE We performed in silico analysis of highly prognostic human AML LSC gene expression signatures using existing datasets of drug-gene interactions to identify compounds predicted to target LSC gene programs. 29921955 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 AlteredExpression disease BEFREE To identify an LSC gene expression signature and test its association with clinical outcomes in AML. 21177505 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.070 Biomarker disease BEFREE The identification of CalDAG-GEF I as a proto-oncogene in BXH-2 acute myeloid leukemia is the first evidence implicating Rap1 signaling in myeloid leukemia. 11278453 2001
CUI: C0023418
Disease: leukemia
leukemia
0.040 Biomarker disease BEFREE METTL14 is required for development and maintenance of AML and self-renewal of leukemia stem/initiation cells (LSCs/LICs). 29290617 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.040 Biomarker disease BEFREE METTL14 is required for development and maintenance of AML and self-renewal of leukemia stem/initiation cells (LSCs/LICs). 29290617 2018
CUI: C0023418
Disease: leukemia
leukemia
0.040 Biomarker disease BEFREE In accordance with our observation that increased expression of miR-126 is associated with unfavorable survival in patients with t(8;21) acute myeloid leukemia (AML), we show that miR-126 overexpression exhibits a stronger effect on long-term survival and progression of AML1-ETO9a-mediated leukemia stem cells/leukemia initiating cells (LSCs/LICs) in mice than does miR-126 knockout. 26361793 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.040 Biomarker disease BEFREE In accordance with our observation that increased expression of miR-126 is associated with unfavorable survival in patients with t(8;21) acute myeloid leukemia (AML), we show that miR-126 overexpression exhibits a stronger effect on long-term survival and progression of AML1-ETO9a-mediated leukemia stem cells/leukemia initiating cells (LSCs/LICs) in mice than does miR-126 knockout. 26361793 2015
CUI: C0023418
Disease: leukemia
leukemia
0.040 Biomarker disease BEFREE These data strongly support the importance of efficient LSC-targeting for the outcome of patients with leukemia. 17339181 2007
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.040 Biomarker disease BEFREE These data strongly support the importance of efficient LSC-targeting for the outcome of patients with leukemia. 17339181 2007
CUI: C0023418
Disease: leukemia
leukemia
0.040 Biomarker disease BEFREE However, it is not known which, if any, of these RGS-rhoGEFs (LARG (leukemia-associated rhoGEF), p115rhoGEF, or PDZrhoGEF) plays a role in G protein-coupled receptor-stimulated rho signaling. 15143072 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.040 Biomarker disease BEFREE However, it is not known which, if any, of these RGS-rhoGEFs (LARG (leukemia-associated rhoGEF), p115rhoGEF, or PDZrhoGEF) plays a role in G protein-coupled receptor-stimulated rho signaling. 15143072 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE Results demonstrated that ARHGEF1 (GEF1), ARHGEF2 (GEF2), and K-RAS genes are the targets of miR-143. miR-143 expression significantly decreased mRNA and protein levels of GEF1, GEF2, and K-RAS genes; lowered the constitutive activities of RhoA, Rac1, and Cdc42 GTPases; decreased the protein levels of MMP-2 and MMP-9; but significantly increased the protein level of E-cadherin. miR-143 expression also significantly inhibited the migration and invasion of Panc-1 cells in vitro, liver metastasis, and xenograft tumor growth in vivo. 23070684 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE These data highlight control of the Rap GEF1-Rap1 molecular switch as a specific requirement for PLCgamma1-mediated tumour cell adhesion. 18037957 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE DNA measurement by LSC revealed DNA diploidy in 14 tumors and DNA aneuploidy in 24 tumors. 10769720 2000
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
0.020 AlteredExpression disease BEFREE By fitting a Cox-LASSO regression model to the clinical outcome and gene-expression levels of LSC enriched genes in 163 pediatric participants of the AML02 multi-center clinical trial (NCT00136084), we developed a six-gene LSC score of prognostic value in pediatric AML (pLSC6). 31645648 2020
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
0.020 AlteredExpression disease BEFREE Although pediatric and adult AML represent two genetically very distinct diseases, we reasoned that common LSC gene expression programs are shared and consequently, the highly prognostic LSC17 signature score recently developed in adults may also be of clinical interest in childhood AML. 30089916 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.020 Biomarker phenotype BEFREE Hence, CD9 could be a very relevant marker for minimal residual disease (MRD) monitoring in AML based on LSC targeting. 30740913 2019