premature skin wrinkling Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. (Human Phenotype Ontology, HP_0100678)
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11 genes associated with the premature skin wrinkling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
EDA ectodysplasin A
EDAR ectodysplasin A receptor
FBLN5 fibulin 5
FGFR2 fibroblast growth factor receptor 2
MED12 mediator complex subunit 12
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PYCR1 pyrroline-5-carboxylate reductase 1
ZNF469 zinc finger protein 469