Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 GeneticVariation BEFREE CYP2C9*3 and HLA-B*51:01 allele carrier statuses are significantly associated with phenytoin-induced eruption; thus, checking this carrier status before prescription would decrease the incidence of phenytoin-induced eruption in clinical practice. 31646624

2019

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE Association between HLA-B Alleles and Carbamazepine-Induced Maculopapular Exanthema and Severe Cutaneous Reactions in Thai Patients. 29546073

2018

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE HLA-B*40:02 and DRB1*04:03 are risk factors for oxcarbazepine-induced maculopapular eruption. 27666425

2016

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 GeneticVariation BEFREE Among these allopurinol-induced cutaneous adverse drug reactions, HLA-B*58:01 was strongly associated with severe cutaneous adverse reactions (odds ratio [OR] = 44.0; 95% confidence interval = 21.5-90.3; P = 2.6 × 10(-41)), and the association was correlated with disease severity (OR = 44.0 for severe cutaneous adverse reactions, OR = 8.5 for maculopapular exanthema). 26996548

2016

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 GeneticVariation BEFREE Absence of HLA-B*1502 and HLA-A*3101 alleles in 9 Korean patients with antiepileptic drug-induced skin rash: a preliminary study. 25187890

2014

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE The association between oxcarbazepine-induced maculopapular eruption and HLA-B alleles in a northern Han Chinese population. 23829937

2013

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE Twelve patients with allopurinol-induced maculopapular exanthema were negative for HLA-B*5801, including one South-East Asian. 21790926

2012

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE We describe the case of a 41-year-old Caucasian female patient, who tested HLA-B*5701 negative and developed fever and severe skin rash 10 weeks after the start of abacavir therapy. 19304978

2009

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 Biomarker BEFREE A strong association between the HLA-B*3505 and NVP-induced skin rash provides a novel insight into the pathogenesis of drug-induced rash in the HIV-infected population. 19104471

2009

Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
CUI: C0015230
Disease: Exanthema
Exanthema
0.400 GeneticVariation BEFREE None of our patients (including two with blistering skin rashes) were positive for the HLA-B*1502 allele. 16981842

2006

Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C0015230
Disease: Exanthema
Exanthema
0.310 Biomarker BEFREE In a case study of exploring the mechanism of rash, we find that HLAs, C1QA and APOA1 are the key gene players and thus can be potential targets (or biomarkers) in monitoring or countermining rashes. 30053268

2018

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0015230
Disease: Exanthema
Exanthema
0.120 AlteredExpression BEFREE In conclusion, a consistently high expression of CX43 suggests that gap-junction communication in HDFCs is essential for the eruption process. 30216610

2018

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0015230
Disease: Exanthema
Exanthema
0.120 Biomarker BEFREE We suggest that the follicle may have an important regulatory function for alveolar bone formation in the final eruption process and CX43-gap junction communication could be an important signalling pathway. 29435865

2018

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0015230
Disease: Exanthema
Exanthema
0.120 GeneticVariation BEFREE Accordingly, skin rash with granuloma formation and specific NOD2 mutations may represent early diagnostic hallmarks of EOS in infants with persistent inflammation. 28130683

2017

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0015230
Disease: Exanthema
Exanthema
0.120 Biomarker BEFREE Blau syndrome and early-onset sarcoidosis are NOD2 gene-associated chronic autoinflammatory diseases characterized by skin rash, arthritis, and/or eye involvement, with noncaseating granulomata as their pathologic hallmark. 17968944

2007

Entrez Id: 335
Gene Symbol: APOA1
APOA1
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 Biomarker BEFREE In a case study of exploring the mechanism of rash, we find that HLAs, C1QA and APOA1 are the key gene players and thus can be potential targets (or biomarkers) in monitoring or countermining rashes. 30053268

2018

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 Biomarker BEFREE HLA-B*40:02 and DRB1*04:03 are risk factors for oxcarbazepine-induced maculopapular eruption. 27666425

2016

Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 GeneticVariation BEFREE Moreover, carriers of the PIK3R1 326I variant were predisposed to skin rash and better survival. 26419366

2015

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 Biomarker BEFREE Treatment with ipilimumab, a fully human anti-CTLA-4 antibody approved for the treatment of advanced melanoma, is associated with some immune-related adverse events (irAEs) such as colitis (gastrointestinal irAE, or GI irAE) and skin rash, which are managed by treatment guidelines. 23521917

2013

Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 GeneticVariation BEFREE Gain-of-function mutations in the NOD domain of Nlrp3 are associated with auto-inflammatory disorders characterized by skin rashes and prolonged episodes of fever. 20079456

2010

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0015230
Disease: Exanthema
Exanthema
0.110 GeneticVariation BEFREE SDHB and SDHD mutations are widely distributed along the genes with no apparent hot spots. 17308434

2007

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0015230
Disease: Exanthema
Exanthema
0.100 Biomarker BEFREE Chinese herbal medicine for epidermal growth factor receptor inhibitor-induced skin rash in patients with malignancy: An updated meta-analysis of 23 randomized controlled trials. 31780021

2019

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0015230
Disease: Exanthema
Exanthema
0.100 Biomarker BEFREE Cetuximab, an inhibitor of the epidermal growth factor receptor that is used widely to treat human cancers including oral squamous cell carcinoma (OSCC), has characteristic side effects of skin rash and hypomagnesemia. 30690028

2019

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0015230
Disease: Exanthema
Exanthema
0.100 Biomarker BEFREE The WoMo score represents a sensitive tool for studies exploiting treatments against EGFR mediated acne-like skin rash. 31199595

2019

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0015230
Disease: Exanthema
Exanthema
0.100 Biomarker BEFREE Instrumental evaluation sensitively detects subclinical skin changes by the epidermal growth factor receptor inhibitors and risk factors for severe acneiform eruption. 30402978

2019