Keratoderma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1275100
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Genes

179 genes associated with the disease Keratoderma in GWAS and other genetic association datasets from the DisGeNET 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
ADAM17 ADAM metallopeptidase domain 17
ADAM23 ADAM metallopeptidase domain 23
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
AQP5 aquaporin 5
AREG amphiregulin
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast)
CARD14 caspase recruitment domain family, member 14
CAST calpastatin
CD28 CD28 molecule
CERS3 ceramide synthase 3
COL14A1 collagen, type XIV, alpha 1
COL17A1 collagen, type XVII, 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
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CXCL2 chemokine (C-X-C motif) ligand 2
CYGB cytoglobin
DCPS decapping enzyme, scavenger
DES desmin
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DOLK dolichol kinase
DSC2 desmocollin 2
DSC3 desmocollin 3
DSG1 desmoglein 1
DSG2 desmoglein 2
DSP desmoplakin
EGFR epidermal growth factor receptor
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EVPL envoplakin
FECH ferrochelatase
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
FHL2 four and a half LIM domains 2
FKTN fukutin
FLNA filamin A, alpha
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GATAD1 GATA zinc finger domain containing 1
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
GMPPA GDP-mannose pyrophosphorylase A
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IL17A interleukin 17A
IL1B interleukin 1, beta
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
ITGB4 integrin, beta 4
JUP junction plakoglobin
KANK2 KN motif and ankyrin repeat domains 2
KDSR 3-ketodihydrosphingosine reductase
KEAP1 kelch-like ECH-associated protein 1
KLHL24 kelch-like family member 24
KLKB1 kallikrein B, plasma (Fletcher factor) 1
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
KRT15 keratin 15, 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
KRT83 keratin 83, 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
LOR loricrin
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP2K7 mitogen-activated protein kinase kinase 7
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MPZ myelin protein zero
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NEBL nebulette
NEXN nexilin (F actin binding protein)
NFE2L2 nuclear factor, erythroid 2-like 2
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NOP10 NOP10 ribonucleoprotein
PARN poly(A)-specific ribonuclease
PEPD peptidase D
PERP PERP, TP53 apoptosis effector
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKP1 plakophilin 1
PLN phospholamban
PNPLA1 patatin-like phospholipase domain containing 1
POMP proteasome maturation protein
PPCS phosphopantothenoylcysteine synthetase
PRDM16 PR domain containing 16
PSEN1 presenilin 1
PSEN2 presenilin 2
PTEN phosphatase and tensin homolog
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RBM20 RNA binding motif protein 20
RECQL4 RecQ protein-like 4
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIPK4 receptor-interacting serine-threonine kinase 4
RSPO1 R-spondin 1
RTEL1 regulator of telomere elongation helicase 1
SACK1G scaffolding CK1 anchoring protein G
SASH1 SAM and SH3 domain containing 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
SEC23B Sec23 homolog B (S. cerevisiae)
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
SRD5A3 steroid 5 alpha-reductase 3
SRY sex determining region Y
TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
TAT tyrosine aminotransferase
TAZ tafazzin
TCAP titin-cap
TCF4 transcription factor 4
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMPO thymopoietin
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TRAPPC11 trafficking protein particle complex 11
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTN titin
TXNRD2 thioredoxin reductase 2
USB1 U6 snRNA biogenesis 1
VCL vinculin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53