Ichthyosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. (Human Phenotype Ontology, HP_0008064)
External Link https://www.disgenet.org/browser/0/1/0/C1835851
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ACE angiotensin I converting enzyme
ADAM19 ADAM metallopeptidase domain 19
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANOS1 anosmin 1
ANXA5 annexin A5
APP amyloid beta (A4) precursor protein
ARSA arylsulfatase A
ARSD arylsulfatase D
ATF1 activating transcription factor 1
AVP arginine vasopressin
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD2 bromodomain containing 2
BTD biotinidase
CA9 carbonic anhydrase IX
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CASP14 caspase 14, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL2 chemokine (C-C motif) ligand 2
CCL7 chemokine (C-C motif) ligand 7
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD274 CD274 molecule
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD68 CD68 molecule
CD8A CD8a molecule
CDC25C cell division cycle 25C
CDK1 cyclin-dependent kinase 1
CDKN2A cyclin-dependent kinase inhibitor 2A
CDSN corneodesmosin
CERS3 ceramide synthase 3
CFH complement factor H
CFLAR CASP8 and FADD-like apoptosis regulator
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CLDN1 claudin 1
CLDN7 claudin 7
COL11A2 collagen, type XI, alpha 2
COL7A1 collagen, type VII, alpha 1
COX2
CREG1 cellular repressor of E1A-stimulated genes 1
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSPG4 chondroitin sulfate proteoglycan 4
CSTA cystatin A (stefin A)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTRL chymotrypsin-like
CX3CL1 chemokine (C-X3-C motif) ligand 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCPS decapping enzyme, scavenger
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DEPDC1B DEP domain containing 1B
DMD dystrophin
DRD4 dopamine receptor D4
DSG1 desmoglein 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELANE elastase, neutrophil expressed
ELOVL4 ELOVL fatty acid elongase 4
EPAS1 endothelial PAS domain protein 1
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
EWSR1 EWS RNA-binding protein 1
EZR ezrin
FBP2 fructose-1,6-bisphosphatase 2
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL1 FOS-like antigen 1
FOXP3 forkhead box P3
GAB2 GRB2-associated binding protein 2
GADD45A growth arrest and DNA-damage-inducible, alpha
GBA glucosidase, beta, acid
GH1 growth hormone 1
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSTA1 glutathione S-transferase alpha 1
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HCCS holocytochrome c synthase
HEATR3 HEAT repeat containing 3
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HMGA2 high mobility group AT-hook 2
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPGDS hematopoietic prostaglandin D synthase
HPSE heparanase
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IL17A interleukin 17A
IL17F interleukin 17F
IL1B interleukin 1, beta
IL22 interleukin 22
IL33 interleukin 33
IL36B interleukin 36, beta
IL6 interleukin 6
IRF8 interferon regulatory factor 8
ISYNA1 inositol-3-phosphate synthase 1
IVL involucrin
IVNS1ABP influenza virus NS1A binding protein
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLK14 kallikrein-related peptidase 14
KLK5 kallikrein-related peptidase 5
KLK6 kallikrein-related peptidase 6
KLK7 kallikrein-related peptidase 7
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT2 keratin 2, type II
KRT20 keratin 20, type I
LAG3 lymphocyte-activation gene 3
LAMB1 laminin, beta 1
LGALS1 lectin, galactoside-binding, soluble, 1
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LIPN lipase, family member N
MAPK1 mitogen-activated protein kinase 1
MAPK8 mitogen-activated protein kinase 8
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MERTK MER proto-oncogene, tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIEF1 mitochondrial elongation factor 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MTAP methylthioadenosine phosphorylase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
NIPAL4 NIPA-like domain containing 4
NLGN4X neuroligin 4, X-linked
NLRX1 NLR family member X1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PARP1 poly (ADP-ribose) polymerase 1
PCLAF PCNA clamp associated factor
PDCD1 programmed cell death 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEBP1 phosphatidylethanolamine binding protein 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PI3 peptidase inhibitor 3, skin-derived
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
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIWIL2 piwi-like RNA-mediated gene silencing 2
PLAGL1 pleiomorphic adenoma gene-like 1
PLXNA2 plexin A2
PNPLA1 patatin-like phospholipase domain containing 1
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POU5F1 POU class 5 homeobox 1
PRB2 proline-rich protein BstNI subfamily 2
PRIMA1 proline rich membrane anchor 1
PRKCB protein kinase C, beta
PROM1 prominin 1
PSD pleckstrin and Sec7 domain containing
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTK2B protein tyrosine kinase 2 beta
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUDP pseudouridine 5'-phosphatase
PYCARD PYD and CARD domain containing
RAB40B RAB40B, member RAS oncogene family
RARA retinoic acid receptor, alpha
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RTN4R reticulon 4 receptor
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7
SEC23B Sec23 homolog B (S. cerevisiae)
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SHBG sex hormone-binding globulin
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLURP1 secreted LY6/PLAUR domain containing 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOCS3 suppressor of cytokine signaling 3
SOCS5 suppressor of cytokine signaling 5
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPP1 secreted phosphoprotein 1
SS18 synovial sarcoma translocation, chromosome 18
SSX2 synovial sarcoma, X breakpoint 2
SSX2B synovial sarcoma, X breakpoint 2B
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STOM stomatin
STS steroid sulfatase (microsomal), isozyme S
SUB1 SUB1 homolog (S. cerevisiae)
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1
SUMF1 sulfatase modifying factor 1
TACC3 transforming, acidic coiled-coil containing protein 3
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
THBD thrombomodulin
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
TST thiosulfate sulfurtransferase (rhodanese)
TYMS thymidylate synthetase
UBASH3A ubiquitin associated and SH3 domain containing A
UTP4 UTP4 small subunit processome component
VCX variable charge, X-linked
VCX3A variable charge, X-linked 3A
VCX3B variable charge, X-linked 3B
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VIM vimentin
VIP vasoactive intestinal peptide
WNT5A wingless-type MMTV integration site family, member 5A