Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease CTD_human
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3569
Gene Symbol: IL6
IL6 		0.100 AlteredExpression disease BEFREE The expression of IL-6 mRNA in one MCD lymph node was analysed by in situ hybridization. 8043430 1994
Entrez Id: 3141
Gene Symbol: HLCS
HLCS 		0.040 GeneticVariation disease BEFREE We have identified six different point mutations in the HCS gene in nine patients with MCD. 8817339 1996
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.050 GeneticVariation disease BEFREE In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD. 9399908 1997
Entrez Id: 930
Gene Symbol: CD19
CD19 		0.010 GeneticVariation disease BEFREE However, the sequences were detected in CD19+ B-lymphocyte and CD2+ T-lymphocyte fractions of two patients with MCD. 9432023 1997
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.010 AlteredExpression disease BEFREE The expression of TNF-alpha increases in mesangial areas in MCD, IMGN stages I/II, and IgA-GN with minor glomerular abnormalities, that is, under conditions with a generally well-preserved glomerular structure. 9669428 1998
Entrez Id: 3141
Gene Symbol: HLCS
HLCS 		0.040 GeneticVariation disease BEFREE We demonstrate that the mutations identified in the MCD patients are indeed responsible for their reduced HCS activity. 10068510 1999
Entrez Id: 9172
Gene Symbol: MYOM2
MYOM2 		0.010 Biomarker disease BEFREE The polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes (POEMS) syndrome is a rare multisystemic disorder associated with osteosclerotic myeloma and multicentric Castleman's disease (MCD). 10339470 1999
Entrez Id: 3859
Gene Symbol: KRT12
KRT12 		0.050 GeneticVariation disease BEFREE In addition, two mutations in the helix initiation motif of K12 were found in families with MCD. 10644419 2000
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: 3859
Gene Symbol: KRT12
KRT12 		0.050 Biomarker disease BEFREE Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level. 10781519 2000
Entrez Id: 6398
Gene Symbol: SECTM1
SECTM1 		0.010 Biomarker disease BEFREE Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level. 10781519 2000
Entrez Id: 55248
Gene Symbol: PACC1
PACC1 		0.010 Biomarker disease BEFREE Using the mapped and ordered microsatellite markers, haplotype analysis on 21 individuals with MCD type I or type II and their family members from Iceland narrowed the MCD interval to 3 overlapping PAC clones. 10869098 2000
Entrez Id: 6898
Gene Symbol: TAT
TAT 		0.010 Biomarker disease BEFREE Mapping data show that the TAT and LCAT genes are not the cause of MCD. 10869098 2000
Entrez Id: 3931
Gene Symbol: LCAT
LCAT 		0.010 GeneticVariation disease BEFREE Mapping data show that the TAT and LCAT genes are not the cause of MCD. 10869098 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 Biomarker disease GENOMICS_ENGLAND Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GermlineCausalMutation disease ORPHANET Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease UNIPROT Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I. 11139648 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I. 11139648 2000
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. 11278593 2001
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 CausalMutation disease CLINVAR Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD. 11818380 2002
Entrez Id: 4166
Gene Symbol: CHST6
CHST6 		0.800 GeneticVariation disease BEFREE Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD. 11818380 2002