translucent skin Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. (Human Phenotype Ontology, HP_0010648)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001201
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Genes

14 gene mutations causing the translucent skin phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANGPT2 angiopoietin 2
CHUK conserved helix-loop-helix ubiquitous kinase
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
KRT10 keratin 10, type I
LOR loricrin
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SPEN spen family transcriptional repressor
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
Funding