Dosage-Sensitive Sex Reversal Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1848296
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Genes

156 genes associated with the disease Dosage-Sensitive Sex Reversal 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
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMH anti-Mullerian hormone
ANGPTL4 angiopoietin-like 4
ARG1 arginase 1
ARNTL aryl hydrocarbon receptor nuclear translocator-like
BCL2 B-cell CLL/lymphoma 2
BCL3 B-cell CLL/lymphoma 3
C3 complement component 3
CALCA calcitonin-related polypeptide alpha
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CD68 CD68 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CHRM3 cholinergic receptor, muscarinic 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLDN2 claudin 2
CLDN3 claudin 3
CLDN4 claudin 4
CMA1 chymase 1, mast cell
COL2A1 collagen, type II, alpha 1
COX2
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUX1 cut-like homeobox 1
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CYBB cytochrome b-245, beta polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DUSP10 dual specificity phosphatase 10
EGFR epidermal growth factor receptor
EGLN2 egl-9 family hypoxia-inducible factor 2
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ESR1 estrogen receptor 1
ESRRB estrogen-related receptor beta
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FGL2 fibrinogen-like 2
FLNB filamin B, beta
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAS6 growth arrest-specific 6
GIF gastric intrinsic factor (vitamin B synthesis)
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPR4 G protein-coupled receptor 4
GPX2 glutathione peroxidase 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLTF helicase-like transcription factor
HM13 histocompatibility (minor) 13
HP haptoglobin
HPSE heparanase
IDO1 indoleamine 2,3-dioxygenase 1
IFNG interferon, gamma
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IL10 interleukin 10
IL12B interleukin 12B
IL17A interleukin 17A
IL17F interleukin 17F
IL18 interleukin 18
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL23A interleukin 23, alpha subunit p19
IL25 interleukin 25
IL6 interleukin 6
IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)
ITGA1 integrin, alpha 1
IVNS1ABP influenza virus NS1A binding protein
KLF5 Kruppel-like factor 5 (intestinal)
LPIN1 lipin 1
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MEFV Mediterranean fever
MGC57346-CRHR1 MGC57346-CRHR1 readthrough
MICB MHC class I polypeptide-related sequence B
MMP10 matrix metallopeptidase 10
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MPZ myelin protein zero
MRTFA myocardin related transcription factor A
MT1A metallothionein 1A
MUC2 mucin 2, oligomeric mucus/gel-forming
MYDGF myeloid-derived growth factor
NFE2L2 nuclear factor, erythroid 2-like 2
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NLRP3 NLR family, pyrin domain containing 3
NOX1 NADPH oxidase 1
NOX4 NADPH oxidase 4
NQO1 NAD(P)H dehydrogenase, quinone 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR4A1 nuclear receptor subfamily 4, group A, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NR5A2 nuclear receptor subfamily 5, group A, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NXF1 nuclear RNA export factor 1
OCLN occludin
PBX1 pre-B-cell leukemia homeobox 1
PILRA paired immunoglobin-like type 2 receptor alpha
PLAU plasminogen activator, urokinase
PLCB4 phospholipase C, beta 4
PLCE1 phospholipase C, epsilon 1
PMP22 peripheral myelin protein 22
POMC proopiomelanocortin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBM45 RNA binding motif protein 45
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RIPK3 receptor-interacting serine-threonine kinase 3
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
S100A12 S100 calcium binding protein A12
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SAT1 spermidine/spermine N1-acetyltransferase 1
SCAF11 SR-related CTD-associated factor 11
SEC14L2 SEC14-like 2 (S. cerevisiae)
SIRT1 sirtuin 1
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SOCS1 suppressor of cytokine signaling 1
SOX9 SRY (sex determining region Y)-box 9
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYT1 synaptotagmin I
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TJP1 tight junction protein 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR6 toll-like receptor 6
TNF tumor necrosis factor
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TPSAB1 tryptase alpha/beta 1
TPSB2 tryptase beta 2 (gene/pseudogene)
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TSPO translocator protein (18kDa)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
USO1 USO1 vesicle transport factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WNK1 WNK lysine deficient protein kinase 1
ZBP1 Z-DNA binding protein 1
ZNF281 zinc finger protein 281