abnormal epidermal-dermal junction morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the multi-layer basement membrane between the dermis and epidermis that serves to adhere the dermis and epidermis, provide mechanical support for the epidermis, and forms a barrier to cells and large molecules across the junction (Mammalian Phenotype Ontology, MP_0011159)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011159
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Genes

6 gene mutations causing the abnormal epidermal-dermal junction morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
COL7A1 collagen, type VII, alpha 1
ITGB4 integrin, beta 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
PLEC plectin
TP63 tumor protein p63