palmoplantar keratoderma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A keratosis characterized by abnormal thickening of the palms and the soles. (Human Disease Ontology, DOID_3390)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000982
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Genes

122 genes associated with the palmoplantar keratoderma 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
AQP5 aquaporin 5
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CARD14 caspase recruitment domain family, member 14
CERS3 ceramide synthase 3
COL14A1 collagen, type XIV, alpha 1
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
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
DSP desmoplakin
DST dystonin
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
FKTN fukutin
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)
JUP junction plakoglobin
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
KRT9 keratin 9, type I
LAMA4 laminin, alpha 4
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
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MT-TS1 tRNA
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
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
PEPD peptidase D
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKP1 plakophilin 1
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
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
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
SNAP29 synaptosomal-associated protein, 29kDa
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)
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTN titin
TXNRD2 thioredoxin reductase 2
USB1 U6 snRNA biogenesis 1
VCL vinculin
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53