Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.500 GermlineCausalMutation disease ORPHANET Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103 1994
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.500 GermlineCausalMutation disease ORPHANET Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722 1993
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.500 Biomarker disease CTD_human
Entrez Id: 57508
Gene Symbol: INTS2
INTS2
0.010 Biomarker disease BEFREE In an external cohort of 266 molecularly annotated myelofibrosis (MF) patients, we demonstrated that the GIPSS model significantly differentiated between four risk groups (low, int-1, int-2, high) with median OS that was not reached, not reached, 60.5 and 28.9 months, respectively. 30390311 2019
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
0.010 GeneticVariation disease BEFREE In an external cohort of 266 molecularly annotated myelofibrosis (MF) patients, we demonstrated that the GIPSS model significantly differentiated between four risk groups (low, int-1, int-2, high) with median OS that was not reached, not reached, 60.5 and 28.9 months, respectively. 30390311 2019
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
0.010 Biomarker disease BEFREE In an external cohort of 266 molecularly annotated myelofibrosis (MF) patients, we demonstrated that the GIPSS model significantly differentiated between four risk groups (low, int-1, int-2, high) with median OS that was not reached, not reached, 60.5 and 28.9 months, respectively. 30390311 2019
Entrez Id: 7471
Gene Symbol: WNT1
WNT1
0.010 GeneticVariation disease BEFREE In an external cohort of 266 molecularly annotated myelofibrosis (MF) patients, we demonstrated that the GIPSS model significantly differentiated between four risk groups (low, int-1, int-2, high) with median OS that was not reached, not reached, 60.5 and 28.9 months, respectively. 30390311 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 Biomarker disease BEFREE These results suggest that TNF-α-mediated ER stress during MF infection contributes to the suppression of intracellular survival of MF in macrophages. 29481309 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE The expression of p-AKT, p-mTOR, p70S6 K, vascular endothelial growth factor and CyclinD1 were decreased in MF treated group. 29421985 2018
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.010 AlteredExpression disease BEFREE The expression of p-AKT, p-mTOR, p70S6 K, vascular endothelial growth factor and CyclinD1 were decreased in MF treated group. 29421985 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker disease BEFREE Therefore, these results suggest that the immune response in MF infection is modulated by IL-6/IL-10 axis. 29032984 2018
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.010 AlteredExpression disease BEFREE The IL-4, IL-6 and IL-10 level increased in infected patients with MF infection, while IL-17A increased in control only. 29032984 2018
Entrez Id: 3565
Gene Symbol: IL4
IL4
0.010 Biomarker disease BEFREE Furthermore, IL-4 was detected as a marker in the MF infection and MF patients with low parasite load, indicating the action of the Th2 cell response. 29032984 2018
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
0.010 Biomarker disease BEFREE Accordingly, primary myelofibrosis (MF) patient cells demonstrate an increased CXCL12-induced chemotaxis when compared to controls. 28903325 2017
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1
0.010 AlteredExpression disease BEFREE Only the staining levels for TCIRG1 within the GCs predicted the clinical behavior of the MF lesions. 27546031 2017
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
0.010 Biomarker disease BEFREE Taken together, these data indicate that CXCL12/CXCR4 pathway is overactivated in MF patients by oncogenic JAK2 that maintains high PI3K signaling over the threshold required for CXCR4 activation. 28903325 2017
Entrez Id: 28608
Gene Symbol: TRBV5-7
TRBV5-7
0.010 AlteredExpression disease BEFREE TRBV5-7 expression increased from the normal, early-stage to advanced-stage lesion in MF patient. 26918607 2016
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
0.010 Biomarker disease BEFREE The results indicate that MF significantly reduced the IL-1β‑induced release of MMP-1 and -13 in SW1353 cells, which was associated with the inhibition of MMP-1 and -13 mRNA and protein expression in a concentration‑dependent manner at concentrations with no cytotoxicity. 26707272 2016
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 Biomarker disease BEFREE The results indicate that MF significantly reduced the IL-1β‑induced release of MMP-1 and -13 in SW1353 cells, which was associated with the inhibition of MMP-1 and -13 mRNA and protein expression in a concentration‑dependent manner at concentrations with no cytotoxicity. 26707272 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.010 AlteredExpression disease BEFREE RQ-PCR experiments showed increased JAK2 expression in patients with the JAK2V617F mutation, with a significant difference between essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF) patients. 23188718 2013
Entrez Id: 9097
Gene Symbol: USP14
USP14
0.010 Biomarker disease BEFREE The 5 and 50 mg/kg dose groups had TGT MFs significantly higher than did controls. 19658153 2010
Entrez Id: 3662
Gene Symbol: IRF4
IRF4
0.010 GeneticVariation disease BEFREE Conversely, T-MF cases with IRF4 rearrangements may correspond to the development of C-ALCL in MF patients and not to large cell transformation. 19812605 2010
Entrez Id: 81890
Gene Symbol: QTRT1
QTRT1
0.010 Biomarker disease BEFREE The 5 and 50 mg/kg dose groups had TGT MFs significantly higher than did controls. 19658153 2010