skin ulcer Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. (Human Phenotype Ontology, HP_0200042)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200042
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Genes

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

Symbol Name
AK2 adenylate kinase 2
ANTXR2 anthrax toxin receptor 2
AQP5 aquaporin 5
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BLNK B-cell linker
BMS1 BMS1 ribosome biogenesis factor
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
CARD9 caspase recruitment domain family, member 9
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CLEC7A C-type lectin domain family 7, member A
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DKC1 dyskeratosis congenita 1, dyskerin
DOCK8 dedicator of cytokinesis 8
DSP desmoplakin
ELANE elastase, neutrophil expressed
FAM134B family with sequence similarity 134, member B
FERMT1 fermitin family member 1
FOXC2 forkhead box C2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HBB hemoglobin, beta
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12B interleukin 12B
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IRF5 interferon regulatory factor 5
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JUP junction plakoglobin
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MBTPS2 membrane-bound transcription factor peptidase, site 2
MLX MLX, MAX dimerization protein
MPV17 MpV17 mitochondrial inner membrane protein
MYD88 myeloid differentiation primary response 88
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NGF nerve growth factor (beta polypeptide)
NHP2 NHP2 ribonucleoprotein
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKP1 plakophilin 1
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RTEL1 regulator of telomere elongation helicase 1
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLURP1 secreted LY6/PLAUR domain containing 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TCF3 transcription factor 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRPV3 transient receptor potential cation channel, subfamily V, member 3
USB1 U6 snRNA biogenesis 1
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WNK1 WNK lysine deficient protein kinase 1
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like