Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
0.020 AlteredExpression disease BEFREE Both in microalbuminuria and in overt DN, TLR4 mRNA and protein were overexpressed 4- to 10-fold in glomeruli and tubules compared with the control kidney and in MCD. 24786705 2014
Entrez Id: 79885
Gene Symbol: HDAC11
HDAC11
0.010 AlteredExpression disease BEFREE CD4<sup>+</sup> T cells isolated from MCD heart tissue showed lower levels of HDAC11 expression than that isolated from DCM heart tissue. 30063898 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.060 Biomarker disease BEFREE Clinical trials with mTOR inhibitors have shown efficacy in the treatment of seizures associated with focal MCD. 25833943 2015
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE Clinically, pegylated-liposomal doxorubicin induced regression of not only KS, but also lymphadenopathy of the MCD lesion with a decrease in KSHV load and human interleukin-6 in the blood. 16984619 2006
Entrez Id: 10376
Gene Symbol: TUBA1B
TUBA1B
0.010 GeneticVariation disease BEFREE Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. 26739025 2016
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
0.010 GeneticVariation disease BEFREE Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. 26739025 2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.050 GeneticVariation disease BEFREE Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. 26739025 2016
Entrez Id: 8131
Gene Symbol: NPRL3
NPRL3
0.020 Biomarker disease BEFREE DEPDC5/NPRL3 KD effects on morphology and functional mTOR activation were reversed by rapamycin. mTOR-dependent effects of DEPDC5/NPRL3 KD on morphology and subcellular localization of mTOR in neurons suggests that loss-of-function in GATOR1 subunits may play a role in MCD formation during fetal brain development. 29481864 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.060 Biomarker disease BEFREE DEPDC5/NPRL3 KD effects on morphology and functional mTOR activation were reversed by rapamycin. mTOR-dependent effects of DEPDC5/NPRL3 KD on morphology and subcellular localization of mTOR in neurons suggests that loss-of-function in GATOR1 subunits may play a role in MCD formation during fetal brain development. 29481864 2018
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
0.010 Biomarker disease BEFREE Diagnosis of MCD is facilitated by tryptase immunostaining and immunophenotyping to detect abnormal CD25-positive mast cells. 18032976 2008
Entrez Id: 3669
Gene Symbol: ISG20
ISG20
0.010 Biomarker disease BEFREE Diagnosis of MCD is facilitated by tryptase immunostaining and immunophenotyping to detect abnormal CD25-positive mast cells. 18032976 2008
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
0.800 GeneticVariation disease UNIPROT Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. 12218059 2002
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 25897
Gene Symbol: RNF19A
RNF19A
0.010 AlteredExpression disease BEFREE ERK and p38 were activated by urine proteins from either MCD or FSGS patients. 18362077 2008
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
0.010 AlteredExpression disease BEFREE Expression of vIRF1, vIL6, and PF-8 proteins in the infected B cells of MCD lymph nodes reproduces the expression pattern observed in TPA-stimulated KSHV-infected B-cell lines. 10702388 2000
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: 51237
Gene Symbol: MZB1
MZB1
0.010 AlteredExpression disease BEFREE Finally, immunohistochemistry analysis showed that pERP1 expression was readily detected in KSHV-positive cells from multicentric Castleman's disease (MCD) and Kaposi's sarcoma (KS) lesions, suggesting that pERP1 may have potential roles in the KSHV life cycle and malignancy. 23986581 2013
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: 7283
Gene Symbol: TUBG1
TUBG1
0.010 GeneticVariation disease BEFREE Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD. 23603762 2013