mitten deformity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a mitten hand deformity. (Human Phenotype Ontology, HP_0004057)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004057
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Genes

2 genes associated with the mitten deformity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL7A1 collagen, type VII, alpha 1
DSP desmoplakin