fragile skin Gene Set
Genes
15 genes associated with the fragile 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
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
EXPH5
|
exophilin 5
|
|
FERMT1
|
fermitin family member 1
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
PLEC
|
plectin
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
UROD
|
uroporphyrinogen decarboxylase
|
