congenital ichthyosiform erythroderma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_1699)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007431
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
EBP emopamil binding protein (sterol isomerase)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
GBA glucosidase, beta, acid
GTF2H5 general transcription factor IIH, polypeptide 5
KRT2 keratin 2, type II
NIPAL4 NIPA-like domain containing 4
NSDHL NAD(P) dependent steroid dehydrogenase-like
POMP proteasome maturation protein
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STS steroid sulfatase (microsomal), isozyme S
TGM1 transglutaminase 1