Pseudoxanthoma elasticum Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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://www.omim.org/entry/264800
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Genes

1 genes associated with the Pseudoxanthoma elasticum phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6