Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4772
Gene Symbol: NFATC1
NFATC1
0.010 Biomarker disease BEFREE Rescue of HDAC1 in NFAT2-knockdown GSCs partially restored tumor growth and MES phenotype. 31400279 2020
Entrez Id: 3065
Gene Symbol: HDAC1
HDAC1
0.010 Biomarker disease BEFREE Rescue of HDAC1 in NFAT2-knockdown GSCs partially restored tumor growth and MES phenotype. 31400279 2020
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.010 Biomarker disease BEFREE The average PL lifetime of TGA and MPA capped QDs is similar (≈20 ns) while in the case of MPS shorter (≈15 ns) and for MES significantly longer (≈30 ns) values are measured. 31171820 2019
Entrez Id: 100287616
Gene Symbol: LOXL1-AS1
LOXL1-AS1
0.010 Biomarker disease BEFREE In conclusion, our results suggest that LOXL1-AS1 contributes to aggressive biological processes that are related with MES phenotype via NF-κB signaling, which expand our perceptions into the underlying mechanisms in LOXL1-AS1-based and subtype transition adapted medicine for GBM management. 29678575 2018
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.010 Biomarker disease BEFREE After adjustment for multiple testing, we found elevated levels of interleukin (IL)-1 receptor antagonist (IL-1RA), IL-6, IL-7, IL-8, IL-9, IL-10, IL-13, interferon-γ, eotaxin-1, granulocyte-macrophage colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1), platelet-derived growth factor with two B subunits (PDGF-BB), macrophage inflammatory protein (MIP)-1α, MIP-1β, vascular endothelial growth factor A (VEGF-A) and RANTES in multiple-episode schizophrenia (MES) patients. 29730395 2018
Entrez Id: 6352
Gene Symbol: CCL5
CCL5
0.010 Biomarker disease BEFREE After adjustment for multiple testing, we found elevated levels of interleukin (IL)-1 receptor antagonist (IL-1RA), IL-6, IL-7, IL-8, IL-9, IL-10, IL-13, interferon-γ, eotaxin-1, granulocyte-macrophage colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1), platelet-derived growth factor with two B subunits (PDGF-BB), macrophage inflammatory protein (MIP)-1α, MIP-1β, vascular endothelial growth factor A (VEGF-A) and RANTES in multiple-episode schizophrenia (MES) patients. 29730395 2018
Entrez Id: 388372
Gene Symbol: CCL4L1
CCL4L1
0.010 AlteredExpression disease BEFREE Other chemokine alterations (elevated levels of IL-8, eotaxin-1 and MIP-1β) were present only in MES patients. 29730395 2018
Entrez Id: 9560
Gene Symbol: CCL4L2
CCL4L2
0.010 AlteredExpression disease BEFREE Other chemokine alterations (elevated levels of IL-8, eotaxin-1 and MIP-1β) were present only in MES patients. 29730395 2018
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
0.010 Biomarker disease BEFREE We also uncover differential roles for IFT-A subunits in controlling the TZ restriction of MKS module components and ciliary exclusion (gating) of periciliary membrane proteins, with IFT-140 controlling their ciliary entry and IFT-43/121/139 controlling their ciliary removal. 30293716 2018
Entrez Id: 100996465
Gene Symbol: LCA10
LCA10
0.010 Biomarker disease BEFREE In contrast, studying LCA10 and MKS fibroblasts we show moderate to severe cilia alterations, providing support for a correlation between disease severity and the ability of cells to express shortened, yet functional, CEP290 isoforms. 29771326 2018
Entrez Id: 6351
Gene Symbol: CCL4
CCL4
0.010 AlteredExpression disease BEFREE Other chemokine alterations (elevated levels of IL-8, eotaxin-1 and MIP-1β) were present only in MES patients. 29730395 2018
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.010 Biomarker disease BEFREE After adjustment for multiple testing, we found elevated levels of interleukin (IL)-1 receptor antagonist (IL-1RA), IL-6, IL-7, IL-8, IL-9, IL-10, IL-13, interferon-γ, eotaxin-1, granulocyte-macrophage colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1), platelet-derived growth factor with two B subunits (PDGF-BB), macrophage inflammatory protein (MIP)-1α, MIP-1β, vascular endothelial growth factor A (VEGF-A) and RANTES in multiple-episode schizophrenia (MES) patients. 29730395 2018
Entrez Id: 7052
Gene Symbol: TGM2
TGM2
0.010 AlteredExpression disease BEFREE Downregulation of TGM2 decreased sphere-forming ability, tumor size, and radioresistance and survival in a xenograft mouse model through a loss of the MES signature. 28754668 2017
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.010 Biomarker disease BEFREE To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. 28291807 2017
Entrez Id: 574457
Gene Symbol: MIR181D
MIR181D
0.010 Biomarker disease BEFREE Taken together, we concluded that loss of miR-181d contributes to aggressive biological processes associated with MES phenotype via NFκB signaling, which broaden our insights into the underlying mechanisms in subtype transition and miRNA-based tailored medicine for GBM management. 28286260 2017
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
0.010 GeneticVariation disease BEFREE In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. 28631893 2017
Entrez Id: 3719
Gene Symbol: JBS
JBS
0.010 Biomarker disease BEFREE Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding. 25920555 2016
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
0.010 Biomarker disease BEFREE The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. 27208211 2016
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
0.010 GeneticVariation disease BEFREE None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. 23386033 2013
Entrez Id: 1855
Gene Symbol: DVL1
DVL1
0.010 AlteredExpression disease BEFREE The 'MKS-like' group also had high de-regulated canonical Wnt/β-catenin signalling associated with hyper-activated Dishevelled-1 (Dvl-1) localized to the basal body. 23283079 2013
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
0.010 Biomarker disease BEFREE Inhibition of ALDH1A3-mediated pathways therefore might provide a promising therapeutic approach for a subset of HGGs with the Mes signature. 23650391 2013
Entrez Id: 27130
Gene Symbol: INVS
INVS
0.010 GeneticVariation disease BEFREE Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP). 24339792 2013
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.010 Biomarker disease BEFREE Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. 24339792 2013
Entrez Id: 392509
Gene Symbol: ARL13A
ARL13A
0.010 Biomarker disease BEFREE Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. 24339792 2013
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.010 Biomarker disease BEFREE Our results suggest that meckelin forms a functional complex with filamin A that is disrupted in MKS and causes defects in neuronal migration and Wnt signalling. 22121117 2012