thickened skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Laminar thickening of skin. (Human Phenotype Ontology, HP_0001072)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001072
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AAGAB alpha- and gamma-adaptin binding protein
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADA adenosine deaminase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APCDD1 adenomatosis polyposis coli down-regulated 1
AQP5 aquaporin 5
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ATL3 atlastin GTPase 3
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG3 BCL2-associated athanogene 3
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CAV1 caveolin 1, caveolae protein, 22kDa
CDH3 cadherin 3, type 1, P-cadherin (placental)
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CIDEC cell death-inducing DFFA-like effector c
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL4A5 collagen, type IV, alpha 5
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CSTA cystatin A (stefin A)
CTC1 CTS telomere maintenance complex component 1
CTSC cathepsin C
CUL4B cullin 4B
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DES desmin
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DOLK dolichol kinase
DSC2 desmocollin 2
DSG1 desmoglein 1
DSG2 desmoglein 2
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
ECM1 extracellular matrix protein 1
ELOVL4 ELOVL fatty acid elongase 4
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERF Ets2 repressor factor
EXPH5 exophilin 5
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL2 four and a half LIM domains 2
FKBP14 FK506 binding protein 14, 22 kDa
FKTN fukutin
FLG filaggrin
FLRT3 fibronectin leucine rich transmembrane protein 3
FLT4 fms-related tyrosine kinase 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FUCA1 fucosidase, alpha-L- 1, tissue
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
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
GMPPA GDP-mannose pyrophosphorylase A
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2H5 general transcription factor IIH, polypeptide 5
HDAC6 histone deacetylase 6
HESX1 HESX homeobox 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
IL1RN interleukin 1 receptor antagonist
IL2RG interleukin 2 receptor, gamma
IL36RN interleukin 36 receptor antagonist
IL7R interleukin 7 receptor
INSR insulin receptor
ITGB4 integrin, beta 4
JUP junction plakoglobin
KIF11 kinesin family member 11
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT6C keratin 6C, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
KRT9 keratin 9, type I
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPH lipase, member H
LIPN lipase, family member N
LMNA lamin A/C
LOR loricrin
LPAR6 lysophosphatidic acid receptor 6
LTBP2 latent transforming growth factor beta binding protein 2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 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
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NAGA N-acetylgalactosaminidase, alpha-
ND1
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAH phenylalanine hydroxylase
PDGFB platelet-derived growth factor beta polypeptide
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKP1 plakophilin 1
PLEC plectin
PLIN1 perilipin 1
PLN phospholamban
PNPLA1 patatin-like phospholipase domain containing 1
POMP proteasome maturation protein
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTRF polymerase I and transcript release factor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBM20 RNA binding motif protein 20
RECQL4 RecQ protein-like 4
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPL21 ribosomal protein L21
RSPO1 R-spondin 1
RTEL1 regulator of telomere elongation helicase 1
SART3 squamous cell carcinoma antigen recognized by T cells 3
SAT1 spermidine/spermine N1-acetyltransferase 1
SBDS Shwachman-Bodian-Diamond syndrome
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
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
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD4 SMAD family member 4
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SNAP29 synaptosomal-associated protein, 29kDa
SNRPE small nuclear ribonucleoprotein polypeptide E
SOX10 SRY (sex determining region Y)-box 10
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRY4 sprouty homolog 4 (Drosophila)
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT1 signal transducer and activator of transcription 1, 91kDa
STIM1 stromal interaction molecule 1
STS steroid sulfatase (microsomal), isozyme S
SUMF1 sulfatase modifying factor 1
TACR3 tachykinin receptor 3
TAT tyrosine aminotransferase
TAZ tafazzin
TCAP titin-cap
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TRAF3IP2 TRAF3 interacting protein 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTN titin
TXNRD2 thioredoxin reductase 2
TYR tyrosinase
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VCL vinculin
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR11 WD repeat domain 11
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24
ZNF750 zinc finger protein 750