vascular skin abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011276
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACP5 acid phosphatase 5, tartrate resistant
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGA aspartylglucosaminidase
AGXT alanine-glyoxylate aminotransferase
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALAS2 5'-aminolevulinate synthase 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ANKRD26 ankyrin repeat domain 26
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARMC5 armadillo repeat containing 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATM ATM serine/threonine kinase
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
BLM Bloom syndrome, RecQ helicase-like
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
CASP10 caspase 10, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCM2 cerebral cavernous malformation 2
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD81 CD81 molecule
CDSN corneodesmosin
CECR1 cat eye syndrome chromosome region, candidate 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSA cathepsin A
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
DDB2 damage-specific DNA binding protein 2, 48kDa
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DSG4 desmoglein 4
DTNBP1 dystrobrevin binding protein 1
ELOVL4 ELOVL fatty acid elongase 4
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ETHE1 ethylmalonic encephalopathy 1
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FECH ferrochelatase
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FKBP14 FK506 binding protein 14, 22 kDa
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
HFE hemochromatosis
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA11 homeobox A11
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
ICOS inducible T-cell co-stimulator
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL36RN interleukin 36 receptor antagonist
IRF5 interferon regulatory factor 5
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0319L KIAA0319-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
MANBA mannosidase, beta A, lysosomal
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MASTL microtubule associated serine/threonine kinase-like
MBTPS2 membrane-bound transcription factor peptidase, site 2
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NAGA N-acetylgalactosaminidase, alpha-
NBEAL2 neurobeachin-like 2
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NIPBL Nipped-B homolog (Drosophila)
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH3 notch 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PCNA proliferating cell nuclear antigen
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PEPD peptidase D
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIN2 Ras and Rab interactor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SCARB2 scavenger receptor class B, member 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SKI SKI proto-oncogene
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNX10 sorting nexin 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SPINK5 serine peptidase inhibitor, Kazal type 5
STIM1 stromal interaction molecule 1
TALDO1 transaldolase 1
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TGM5 transglutaminase 5
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TMEM173 transmembrane protein 173
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNXB tenascin XB
TREX1 three prime repair exonuclease 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
USB1 U6 snRNA biogenesis 1
UVSSA UV-stimulated scaffold protein A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469