Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 AlteredExpression disease BEFREE IL-6 levels among the MCD patients tested in this study were correlated with levels of albumin, hemoglobin, triglyceride, total cholesterol, C-reactive protein, fibrinogen and immunoglobulin G (Spearman's correlation coefficient, ;r; = 0.28-0.59). 31829070 2020
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
0.010 Biomarker disease BEFREE KSHV thymidine kinase can phosphorylate zidovudine and ganciclovir to toxic moieties, and direct activation of ORF21 by XBP-1s may also help explain the effectiveness of zidovudine and valganciclovir in the treatment of KSHV-MCD . 31801863 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.060 Biomarker disease BEFREE Mutations in single genes encoding mTOR pathway regulatory proteins have been linked to MCD such as focal cortical dysplasia (FCD) types IIa and IIb, hemimegalencephaly (HME), and megalencephaly. 31625153 2019
Entrez Id: 8131
Gene Symbol: NPRL3
NPRL3
0.020 GeneticVariation disease BEFREE Family pedigrees carrying mutations in either DEPDC5 or NPRL3 share clinical phenotypes of epilepsy and MCD, as well as intellectual and neuropsychiatric disabilities. 31625153 2019
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2
0.010 GeneticVariation disease BEFREE Interestingly, some individuals with seizures associated with DEPDC5, NPRL3, or NPRL2 variants exhibit normal brain imaging suggesting either occult MCD or a role for these genes in non-lesional neocortical epilepsy. 31625153 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Interleukin-6 (IL-6) is a pleiotropic cytokine which is involved in a large range of physiological processes in our body such as pro-inflammatory, anti-inflammation, differentiation of T-cells and is reported to be a key pathological factor in MCD. 31475901 2019
Entrez Id: 5319
Gene Symbol: PLA2G1B
PLA2G1B
0.010 Biomarker disease BEFREE While there is an increasing understanding of primary MN with the discovery of antibodies directed against phospholipase A2 receptor (PLA2R Ab) and thrombospondin type 1 domain-containing 7A, circulatory factors causative of inducing MCD and FSGS remain in part elusive. 31447217 2019
Entrez Id: 221981
Gene Symbol: THSD7A
THSD7A
0.010 Biomarker disease BEFREE While there is an increasing understanding of primary MN with the discovery of antibodies directed against phospholipase A2 receptor (PLA2R Ab) and thrombospondin type 1 domain-containing 7A, circulatory factors causative of inducing MCD and FSGS remain in part elusive. 31447217 2019
Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ
0.010 Biomarker disease BEFREE While there is an increasing understanding of primary MN with the discovery of antibodies directed against phospholipase A2 receptor (PLA2R Ab) and thrombospondin type 1 domain-containing 7A, circulatory factors causative of inducing MCD and FSGS remain in part elusive. 31447217 2019
Entrez Id: 151056
Gene Symbol: PLB1
PLB1
0.010 Biomarker disease BEFREE While there is an increasing understanding of primary MN with the discovery of antibodies directed against phospholipase A2 receptor (PLA2R Ab) and thrombospondin type 1 domain-containing 7A, circulatory factors causative of inducing MCD and FSGS remain in part elusive. 31447217 2019
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE The discovery that Kaposi sarcoma herpesvirus/human herpesvirus (HHV)-8 drives MCD in a subset of patients has led to the hypotheses that UCD and MCD patients with negative HHV-8 testing by conventional methods may represent false negatives, or that these cases are driven by another virus, known or unknown. 31242229 2019
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD
0.010 Biomarker disease BEFREE The discovery that Kaposi sarcoma herpesvirus/human herpesvirus (HHV)-8 drives MCD in a subset of patients has led to the hypotheses that UCD and MCD patients with negative HHV-8 testing by conventional methods may represent false negatives, or that these cases are driven by another virus, known or unknown. 31242229 2019
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.030 Biomarker disease BEFREE FSGS cases expressed more uPAR than each of control and MCD (p = 0.0019; H = 12.57) and there was a positive and significant correlation between nephrin and podocin (p = 0.0026, rS = 0.6502) in these cases. 31188898 2019
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE These findings suggested that SAA exerted podocyte-protection against MCD injury through PPARγ/Angptl4 and Nrf2/HO-1 pathways, and combined with low-dose prednisone possessed a significant anti-proteinuria and therapeutic effects in MCD rats. 31129156 2019
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 Biomarker disease BEFREE These findings suggested that SAA exerted podocyte-protection against MCD injury through PPARγ/Angptl4 and Nrf2/HO-1 pathways, and combined with low-dose prednisone possessed a significant anti-proteinuria and therapeutic effects in MCD rats. 31129156 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.060 Biomarker disease BEFREE Here, we identified hypervascularization in mTOR-dependent MCD in the absence of seizures in young mice, suggesting that increased angiogenesis occurs during development in parallel to alterations in corticogenesis. 31125447 2019
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.800 GeneticVariation disease BEFREE The current study highlighted the demand of further functional investigations to evaluate the causality of CHST6 variants, so as to promote earlier accurate diagnosis of MCD and future development of potential targets for genetic therapy. 30716718 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
0.010 Biomarker disease BEFREE We performed array-CGH in 106 patients with different malformations of cortical development (MCD) and looked for common pathways possibly involved in PNH. 30683929 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE The high titer of serum vascular endothelial growth factor and interleukin-6 could explain common characteristic vascular lesions in both TAFRO syndrome and POEMS syndrome/MCD. 30632181 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.040 Biomarker disease BEFREE The high titer of serum vascular endothelial growth factor and interleukin-6 could explain common characteristic vascular lesions in both TAFRO syndrome and POEMS syndrome/MCD. 30632181 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Viral IL-6 is also considered to contribute significantly to HHV-8-associated pathogenesis, since vIL-6 can promote cell proliferation, cell survival, and angiogenesis that are characteristic of HHV-8-associated Kaposi's sarcoma, PEL and multicentric Castleman's disease (MCD), in addition to proinflammatory activities observed in MCD-like "Kaposi's sarcoma-associated herpesvirus-induced cytokine syndrome." 30541844 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 Biomarker disease BEFREE UAGT levels were correlated negatively with serum albumin (r = - 0.393, p = 0.006) and estimated glomerular filtration rate (eGFR) (r = - 0.352, p = 0.014) and positively with 24-h proteinuria (r = 0.614, p < 0.001) in iMN patients but not in MCD patients. 30541470 2018
Entrez Id: 941
Gene Symbol: CD80
CD80
0.080 Biomarker disease BEFREE Our results suggest that urinary CD80 is unreliable as a differential diagnostic marker between MCD in relapse and FSGS or inherited kidney diseases. 30470792 2018
Entrez Id: 23109
Gene Symbol: DDN
DDN
0.010 AlteredExpression disease BEFREE We analyzed dendrin expression in IgA glomerulonephritis and Henoch Schönlein purpura (IgAN/HSP) versus in podocytopathies minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS), and compared it to pathohistological findings and renal function at the time of biopsy and the last follow-up. 30458823 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Recent clinical observations have shown that IL-6 production is implicated in allograft rejection, while IL-6 receptor blockade (with tocilizumab [TCZ]) reduces alloantibody generation and thereby improves graft survival; however, the efficacy and safety of TCZ in MCD patients undergoing KTx is still unknown. 30314457 2018