erythroderma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. (Human Phenotype Ontology, HP_0001019)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001019
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Genes

17 genes associated with the erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DSG1 desmoglein 1
EBP emopamil binding protein (sterol isomerase)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
GJB2 gap junction protein, beta 2, 26kDa
GTF2H5 general transcription factor IIH, polypeptide 5
KRT1 keratin 1, type II
KRT10 keratin 10, type I
MBTPS2 membrane-bound transcription factor peptidase, site 2
NIPAL4 NIPA-like domain containing 4
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SPINK5 serine peptidase inhibitor, Kazal type 5
TGM1 transglutaminase 1