Steroid Sulfatase Deficiency Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2717836
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Genes

167 genes associated with the disease Steroid Sulfatase Deficiency Disease 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
ANOS1 anosmin 1
ANXA5 annexin A5
ATF1 activating transcription factor 1
BCL2 B-cell CLL/lymphoma 2
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
CA9 carbonic anhydrase IX
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL2 chemokine (C-C motif) ligand 2
CCL7 chemokine (C-C motif) ligand 7
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
CFH complement factor H
CFLAR CASP8 and FADD-like apoptosis regulator
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
COL11A2 collagen, type XI, alpha 2
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
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CX3CL1 chemokine (C-X3-C motif) ligand 1
DEPDC1B DEP domain containing 1B
DHCR7 7-dehydrocholesterol reductase
DMD dystrophin
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELANE elastase, neutrophil expressed
EPAS1 endothelial PAS domain protein 1
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
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
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
GSTA1 glutathione S-transferase alpha 1
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
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IL1B interleukin 1, beta
IL33 interleukin 33
IL6 interleukin 6
IRF8 interferon regulatory factor 8
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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
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
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIEF1 mitochondrial elongation factor 1
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
MYC v-myc avian myelocytomatosis viral oncogene homolog
NME1 NME/NM23 nucleoside diphosphate kinase 1
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
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
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PRB2 proline-rich protein BstNI subfamily 2
PRIMA1 proline rich membrane anchor 1
PRKCB protein kinase C, beta
PROM1 prominin 1
PTEN phosphatase and tensin homolog
PTK2B protein tyrosine kinase 2 beta
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
RTN4R reticulon 4 receptor
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPP1 secreted phosphoprotein 1
SS18 synovial sarcoma translocation, chromosome 18
SSX2 synovial sarcoma, X breakpoint 2
SSX2B synovial sarcoma, X breakpoint 2B
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
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
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