Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.320 Biomarker phenotype CTD_human Polymorphisms in radio-responsive genes and its association with acute toxicity among head and neck cancer patients. 24594932 2014
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.320 GeneticVariation phenotype BEFREE Association of single nucleotide polymorphisms in the genes ATM, GSTP1, SOD2, TGFB1, XPD and XRCC1 with risk of severe erythema after breast conserving radiotherapy. 22537351 2012
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.320 GeneticVariation phenotype BEFREE Dose and polymorphic genes xrcc1, xrcc3, gst play a role in the risk of articledeveloping erythema in breast cancer patients following single shot partial breast irradiation after conservative surgery. 21749698 2011
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
0.310 GeneticVariation phenotype BEFREE We used niacin-induced dermal erythema as one index of AA metabolism to identify a common C to T single nucleotide polymorphism (SNP) in the first intron of the FACL4 gene (Xq22.3), which is associated with enhanced dermal erythema in both schizophrenia and control subjects. 15108178 2004
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
0.310 Biomarker phenotype CTD_human Male subjects with the T0 genotype showed greater dermal erythema following topical application of methylnicotinate, suggesting that this polymorphism may be in linkage disequilibrium with a functional polymorphism of the FACL4 gene that modulates re-sequestration of agonist-released free AA. 15108178 2004
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.300 Biomarker phenotype CTD_human Yohimbine hydrochloride ameliorates collagen type-II-induced arthritis targeting oxidative stress and inflammatory cytokines in Wistar rats. 27028940 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.300 Biomarker phenotype CTD_human The aryl hydrocarbon receptor suppresses osteoblast proliferation and differentiation through the activation of the ERK signaling pathway. 25194622 2014
Entrez Id: 735
Gene Symbol: C9
C9
0.300 Biomarker phenotype CTD_human Hereditary complement (C9) deficiency associated with dermatomyositis. 11359403 2001
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.110 AlteredExpression phenotype BEFREE In addition, subcutaneous injection of KLK-5 in SOD3 knock-out (KO) mice exhibited erythema with increased epidermal thickness, mast cell and neutrophil infiltration, expression of inflammatory mediators and activation of EGFR, PAR2, NLRP3, and downstream MAP kinase pathways. 31465746 2020
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.110 Biomarker phenotype BEFREE The effects of UV on the skin mainly include acute inflammation (erythema/edema) and abnormal keratinization wherein prostaglandin E<sub>2</sub> (produced by cyclooxygenase-2), interleukin-8 and transglutaminase 1 (a major regulatory factor of keratinization) play pivotal roles. 30338860 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.110 GeneticVariation phenotype BEFREE The multiple logistic regression analysis revealed that the presence of MEFV exon 10 mutations and earlier onset were significantly associated with serositis, whereas the absence of MEFV exon 10 mutations, later onset, and the presence of erysipelas-like erythema were significantly associated with musculoskeletal manifestations. 30458853 2018
Entrez Id: 340061
Gene Symbol: STING1
STING1
0.110 Biomarker phenotype BEFREE SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. 26584874 2016
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.110 Biomarker phenotype BEFREE HLA-DRB1*1501 also demonstrated association with erythematous conditions (ICD9 695, P=0.0054) and benign neoplasms of the respiratory and intrathoracic organs (ICD9 212, P=0.042), replicating previous findings. 23392276 2013
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.110 GeneticVariation phenotype BEFREE However, in patients with small breast volume the TGFB1 SNP was associated with erythema (p = 0.028), whereas the SNP in XPD showed an association in patients with large breast volume (p = 0.046). 22537351 2012
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.110 GeneticVariation phenotype BEFREE Patients with AD with FLG mutations had significantly higher erythema compared to patients with AD without FLG mutations. 20132155 2010
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
0.110 Biomarker phenotype BEFREE Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. 18280351 2008
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.110 CausalMutation phenotype CLINVAR Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 16444271 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.110 CausalMutation phenotype CLINVAR Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 16550169 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.110 CausalMutation phenotype CLINVAR Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 17030239 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG
0.110 CausalMutation phenotype CLINVAR Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 16815158 2006
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.110 GeneticVariation phenotype BEFREE Erythrokeratoderma variabilis, characterized by migrating erythema and fixed keratotic plaques, is a rare congenital disorder which has recently been connected with connexin (Cx)30.3 or Cx31 gene mutations. 12926797 2003
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.110 AlteredExpression phenotype BEFREE She was diagnosed as having Sjögren syndrome by results of sialography and serological studies, and moreover, it was also observed that the C1 inhibitor (C1-INH) activity in her plasma was very low during these episodes of urticarial erythema. 8403537 1993
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.110 Biomarker phenotype HPO
Entrez Id: 340061
Gene Symbol: STING1
STING1
0.110 Biomarker phenotype HPO
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.110 Biomarker phenotype HPO