Poikiloderma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. (Human Phenotype Ontology, HP_0001029)
External Link https://www.disgenet.org/browser/0/1/0/C0392777
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Genes

20 genes associated with the disease Poikiloderma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
CD28 CD28 molecule
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DDB2 damage-specific DNA binding protein 2, 48kDa
ENOSF1 enolase superfamily member 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
FAM111B family with sequence similarity 111, member B
FERMT1 fermitin family member 1
LMNA lamin A/C
MECP2 methyl CpG binding protein 2
POLH polymerase (DNA directed), eta
RECQL4 RecQ protein-like 4
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
USB1 U6 snRNA biogenesis 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C