localized skin lesion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lesion of the skin that is located in a specific region rather than being generalized. (Human Phenotype Ontology, HP_0011355)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011355
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACP5 acid phosphatase 5, tartrate resistant
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AK2 adenylate kinase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
AQP5 aquaporin 5
ARHGAP31 Rho GTPase activating protein 31
ARMC5 armadillo repeat containing 5
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CARD9 caspase recruitment domain family, member 9
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC22 coiled-coil domain containing 22
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
CD96 CD96 molecule
CDH3 cadherin 3, type 1, P-cadherin (placental)
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHUK conserved helix-loop-helix ubiquitous kinase
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
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
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CRBN cereblon
CREBBP CREB binding protein
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND2 catenin (cadherin-associated protein), delta 2
CTSC cathepsin C
CUL4B cullin 4B
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCHS1 dachsous cadherin-related 1
DDB2 damage-specific DNA binding protein 2, 48kDa
DEAF1 DEAF1 transcription factor
DHCR24 24-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DSC3 desmocollin 3
DSP desmoplakin
DST dystonin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX2 epoxide hydrolase 2, cytoplasmic
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM134B family with sequence similarity 134, member B
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC2 forkhead box C2
G6PC glucose-6-phosphatase, catalytic subunit
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF1 growth differentiation factor 1
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
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GPC3 glypican 3
GRHL3 grainyhead-like 3 (Drosophila)
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HFE hemochromatosis
HIC1 hypermethylated in cancer 1
HLA-B major histocompatibility complex, class I, B
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
HOXA13 homeobox A13
HPS1 Hermansky-Pudlak syndrome 1
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
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
INSR insulin receptor
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JAG1 jagged 1
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT17 keratin 17, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPC lipase, hepatic
LMNA lamin A/C
LPL lipoprotein lipase
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MED12 mediator complex subunit 12
MEN1 multiple endocrine neoplasia I
MGP matrix Gla protein
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLX MLX, MAX dimerization protein
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSX2 msh homeobox 2
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
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NHP2 NHP2 ribonucleoprotein
NKX2-5 NK2 homeobox 5
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX3 paired box 3
PCNT pericentrin
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE8B phosphodiesterase 8B
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
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKP1 plakophilin 1
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
PPOX protoporphyrinogen oxidase
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
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
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RTEL1 regulator of telomere elongation helicase 1
SALL1 spalt-like transcription factor 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3BP2 SH3-domain binding protein 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SKI SKI proto-oncogene
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAI2 snail family zinc finger 2
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SPRED1 sprouty-related, EVH1 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)
STEAP3 STEAP family member 3, metalloreductase
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
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)
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF3 transcription factor 3
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TMCO1 transmembrane and coiled-coil domains 1
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRIM37 tripartite motif containing 37
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTPA tocopherol (alpha) transfer protein
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNK1 WNK lysine deficient protein kinase 1
WNT5A wingless-type MMTV integration site family, member 5A
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
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469