Hyperkeratosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0870082
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Genes

191 genes associated with the disease Hyperkeratosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ADAM10 ADAM metallopeptidase domain 10
ADAM17 ADAM metallopeptidase domain 17
ADIPOQ adiponectin, C1Q and collagen domain containing
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
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP2A1 adaptor-related protein complex 2, alpha 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC1 apolipoprotein C-I
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AREG amphiregulin
ARID1B AT rich interactive domain 1B (SWI1-like)
ATL3 atlastin GTPase 3
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
BCL2 B-cell CLL/lymphoma 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C1QTNF9 C1q and tumor necrosis factor related protein 9
CARD14 caspase recruitment domain family, member 14
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CD28 CD28 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDSN corneodesmosin
CETP cholesteryl ester transfer protein, plasma
CKAP4 cytoskeleton-associated protein 4
CLEC7A C-type lectin domain family 7, member A
COG6 component of oligomeric golgi complex 6
COL7A1 collagen, type VII, alpha 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CYGB cytoglobin
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DDB2 damage-specific DNA binding protein 2, 48kDa
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila)
DLX3 distal-less homeobox 3
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DSG1 desmoglein 1
DSP desmoplakin
ECM1 extracellular matrix protein 1
EGFR epidermal growth factor receptor
ELMO2 engulfment and cell motility 2
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
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERMARD ER membrane-associated RNA degradation
EVPL envoplakin
EXPH5 exophilin 5
FAS Fas cell surface death receptor
FGFR3 fibroblast growth factor receptor 3
FLG filaggrin
FLT4 fms-related tyrosine kinase 4
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAL galanin/GMAP prepropeptide
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
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLS glutaminase
GRHL2 grainyhead-like 2 (Drosophila)
HDAC6 histone deacetylase 6
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17B interleukin 17B
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RC interleukin 17 receptor C
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL20 interleukin 20
IL23A interleukin 23, alpha subunit p19
IL6 interleukin 6
INSR insulin receptor
JUP junction plakoglobin
KDF1 keratinocyte differentiation factor 1
KEAP1 kelch-like ECH-associated protein 1
KITLG KIT ligand
KLF5 Kruppel-like factor 5 (intestinal)
KLK7 kallikrein-related peptidase 7
KLK8 kallikrein-related peptidase 8
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT13 keratin 13, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6C keratin 6C, type II
KRT9 keratin 9, type I
KRTAP5-1 keratin associated protein 5-1
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LIPN lipase, family member N
LMNA lamin A/C
LOR loricrin
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK8 mitogen-activated protein kinase 8
MAPKAP1 mitogen-activated protein kinase associated protein 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCC mutated in colorectal cancers
MFAP1 microfibrillar-associated protein 1
MPDU1 mannose-P-dolichol utilization defect 1
MPO myeloperoxidase
MRPL28 mitochondrial ribosomal protein L28
MVK mevalonate kinase
NAGA N-acetylgalactosaminidase, alpha-
NAT9 N-acetyltransferase 9 (GCN5-related, putative)
NEU1 sialidase 1 (lysosomal sialidase)
NFE2L2 nuclear factor, erythroid 2-like 2
NIPAL4 NIPA-like domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NOTCH1 notch 1
NOTCH2 notch 2
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPS neuropeptide S
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NXT1 nuclear transport factor 2-like export factor 1
OGG1 8-oxoguanine DNA glycosylase
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OPN5 opsin 5
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM7 PDZ and LIM domain 7 (enigma)
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMVK phosphomevalonate kinase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POMP proteasome maturation protein
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIT1 Ras-like without CAAX 1
RPE65 retinal pigment epithelium-specific protein 65kDa
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8
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
SOS2 son of sevenless homolog 2 (Drosophila)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STS steroid sulfatase (microsomal), isozyme S
SUB1 SUB1 homolog (S. cerevisiae)
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1
TAT tyrosine aminotransferase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGM1 transglutaminase 1
TMPRSS6 transmembrane protease, serine 6
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSLP thymic stromal lymphopoietin
TYR tyrosinase
UVRAG UV radiation resistance associated
VEGFC vascular endothelial growth factor C
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XPR1 xenotropic and polytropic retrovirus receptor 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZNF750 zinc finger protein 750