Pseudoxanthoma Elasticum Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (Human Disease Ontology, DOID_2738)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D011561
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Genes

3 genes/proteins associated with the disease Pseudoxanthoma Elasticum from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
XYLT2 xylosyltransferase II 2.88009
XYLT1 xylosyltransferase I 2.88009
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 2.88009