Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.110 Biomarker phenotype HPO
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: 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: 4210
Gene Symbol: MEFV
MEFV
0.110 Biomarker phenotype HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100 Biomarker phenotype HPO
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
0.100 Biomarker phenotype HPO
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.100 Biomarker phenotype HPO
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
0.100 Biomarker phenotype HPO
Entrez Id: 64065
Gene Symbol: PERP
PERP
0.100 Biomarker phenotype HPO
Entrez Id: 127534
Gene Symbol: GJB4
GJB4
0.100 Biomarker phenotype HPO
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
0.100 Biomarker phenotype HPO
Entrez Id: 643418
Gene Symbol: LIPN
LIPN
0.100 Biomarker phenotype HPO
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
0.100 Biomarker phenotype HPO
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
0.100 Biomarker phenotype HPO
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
0.100 Biomarker phenotype HPO
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
0.100 Biomarker phenotype HPO
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
0.100 Biomarker phenotype HPO
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
0.100 Biomarker phenotype HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
0.100 Biomarker phenotype HPO
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.100 Biomarker phenotype HPO
Entrez Id: 641
Gene Symbol: BLM
BLM
0.100 Biomarker phenotype HPO
Entrez Id: 7508
Gene Symbol: XPC
XPC
0.100 Biomarker phenotype HPO
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
0.100 Biomarker phenotype HPO
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4
0.100 Biomarker phenotype HPO
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
0.100 Biomarker phenotype HPO