hyperkeratosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. (Human Phenotype Ontology, HP_0000962)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000962
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Genes

191 genes associated with the hyperkeratosis 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
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
APCDD1 adenomatosis polyposis coli down-regulated 1
AQP5 aquaporin 5
ATL3 atlastin GTPase 3
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CDH3 cadherin 3, type 1, P-cadherin (placental)
CERS3 ceramide synthase 3
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
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
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
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
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
ECM1 extracellular matrix protein 1
ELOVL4 ELOVL fatty acid elongase 4
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EXPH5 exophilin 5
FERMT1 fermitin family member 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
FLT4 fms-related tyrosine kinase 4
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
HDAC6 histone deacetylase 6
HLA-DRA major histocompatibility complex, class II, DR alpha
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
INSR insulin receptor
ITGB4 integrin, beta 4
JUP junction plakoglobin
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
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
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
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
MT-TS1 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-
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
NOP10 NOP10 ribonucleoprotein
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
PEPD peptidase D
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKP1 plakophilin 1
PLEC plectin
PLN phospholamban
PNPLA1 patatin-like phospholipase domain containing 1
POMP proteasome maturation protein
PRDM16 PR domain containing 16
PSEN1 presenilin 1
PSEN2 presenilin 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RECQL4 RecQ protein-like 4
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPL21 ribosomal protein L21
RSPO1 R-spondin 1
RTEL1 regulator of telomere elongation helicase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
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
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLURP1 secreted LY6/PLAUR domain containing 1
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
SRD5A3 steroid 5 alpha-reductase 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STS steroid sulfatase (microsomal), isozyme S
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
USB1 U6 snRNA biogenesis 1
VCL vinculin
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