cutis laxa Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. (Human Disease Ontology, DOID_3144)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000973
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Genes

60 genes associated with the cutis laxa 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
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
CD96 CD96 molecule
CLIP2 CAP-GLY domain containing linker protein 2
COL3A1 collagen, type III, alpha 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBLN5 fibulin 5
FGF20 fibroblast growth factor 20
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC1 forkhead box C1
GGCX gamma-glutamyl carboxylase
GORAB golgin, RAB6-interacting
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
IFT43 intraflagellar transport 43
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LTBP4 latent transforming growth factor beta binding protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
OSMR oncostatin M receptor
PEX1 peroxisomal biogenesis factor 1
PITX2 paired-like homeodomain 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RFC2 replication factor C (activator 1) 2, 40kDa
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SRD5A3 steroid 5 alpha-reductase 3
TBL2 transducin (beta)-like 2
TRPS1 trichorhinophalangeal syndrome I
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR19 WD repeat domain 19
ZNF469 zinc finger protein 469