redundant skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Loose and sagging skin often associated with loss of skin elasticity. (Human Phenotype Ontology, HP_0001582)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001582
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Genes

14 genes associated with the redundant skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ELN elastin
FBLN5 fibulin 5
FGF20 fibroblast growth factor 20
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NPR2 natriuretic peptide receptor 2
PEX1 peroxisomal biogenesis factor 1
PYCR1 pyrroline-5-carboxylate reductase 1