milia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. (Human Phenotype Ontology, HP_0001056)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001056
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Genes

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

Symbol Name
COL7A1 collagen, type VII, alpha 1
CYLD cylindromatosis (turban tumor syndrome)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
OFD1 oral-facial-digital syndrome 1
PLEC plectin
PTCH1 patched 1
PTCH2 patched 2
SUFU suppressor of fused homolog (Drosophila)