Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.100 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
0.100 Biomarker disease HPO
Entrez Id: 30817
Gene Symbol: ADGRE2
ADGRE2
0.100 Biomarker disease HPO
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease HPO
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
0.100 Biomarker disease HPO
Entrez Id: 7454
Gene Symbol: WAS
WAS
0.100 Biomarker disease HPO
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
0.100 Biomarker disease HPO
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
0.100 Biomarker disease HPO
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
0.100 Biomarker disease HPO
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.100 Biomarker disease HPO
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
0.100 Biomarker disease HPO
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12
0.100 Biomarker disease HPO
Entrez Id: 2870
Gene Symbol: GRK6
GRK6
0.100 CausalMutation disease CLINVAR
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
0.100 Biomarker disease HPO
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
0.100 Biomarker disease HPO
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.160 GeneticVariation disease BEFREE Urticarial rash, one of the clinical manifestations characteristic of cryopyrin-associated periodic syndrome (CAPS), is caused by a mutation in the gene encoding for NLRP3 (nucleotide-binding oligomerization domain, leucine-rich repeats containing family, pyrin domain containing 3). 20179416 2010
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.010 GeneticVariation disease BEFREE Urticarial rash, one of the clinical manifestations characteristic of cryopyrin-associated periodic syndrome (CAPS), is caused by a mutation in the gene encoding for NLRP3 (nucleotide-binding oligomerization domain, leucine-rich repeats containing family, pyrin domain containing 3). 20179416 2010
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.030 Biomarker disease BEFREE Angiotensin-converting enzyme (ACE) inhibitor associated angioedema was detected in 39 subjects (17%) of 231 consecutive patients examined in the last 5 years at our out-patient clinic for symptoms of angioedema without urticaria. 10604520 1999
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
0.010 Biomarker disease BEFREE PCNA positivity was also observed in some endothelial cells and ependymal cells in HIVE CNS. 15161643 2004
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.020 AlteredExpression disease BEFREE SOD activity and expression were increased in all types of non-immediate reactions (urticaria, maculopapular exanthema and toxic epidermal necrolysis). 16879248 2006
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
0.020 AlteredExpression disease BEFREE Granzyme B and H precursor gene expression was up-regulated and interleukin (IL)-12A precursor, a maturation factor for natural killer cells and CTLs, was down-regulated in HIVE versus HIVnE brain. 16966218 2006
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.010 GeneticVariation disease BEFREE PTPN22 polymorphism presumably plays a role in the genetic background of chronic spontaneous autoreactive urticaria. 22722472 2012
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.330 Biomarker disease BEFREE IL-1 receptor antagonist anakinra is usually highly efficient in Schnitzler syndrome (SS), a rare inflammatory condition associating urticaria, fever, and IgM monoclonal gammopathy. 23527164 2013
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.030 Biomarker disease BEFREE IL-1 receptor antagonist anakinra is usually highly efficient in Schnitzler syndrome (SS), a rare inflammatory condition associating urticaria, fever, and IgM monoclonal gammopathy. 23527164 2013
Entrez Id: 5335
Gene Symbol: PLCG1
PLCG1
0.010 GeneticVariation disease BEFREE PLCG1 rs2228246 (angioedema vs. controls; Pc=0.044), and TNFRS11A rs1805034 (urticaria+angioedema vs. controls; Pc=0.041). 26398624 2015