Pemphigus Vulgaris Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. (Experimental Factor Ontology, EFO_0004719)
External Link https://www.disgenet.org/browser/0/1/0/C0030809
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADAM10 ADAM metallopeptidase domain 10
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALB albumin
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
C3 complement component 3
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL17 chemokine (C-C motif) ligand 17
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL19 chemokine (C-C motif) ligand 19
CD163 CD163 molecule
CD28 CD28 molecule
CD86 CD86 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK2 cyclin-dependent kinase 2
CFLAR CASP8 and FADD-like apoptosis regulator
COL17A1 collagen, type XVII, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DSC2 desmocollin 2
DSC3 desmocollin 3
DSG1 desmoglein 1
DSG2 desmoglein 2
DSG3 desmoglein 3
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
EGFR epidermal growth factor receptor
ENG endoglin
EPHB2 EPH receptor B2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FCGRT Fc fragment of IgG, receptor, transporter, alpha
FLNB filamin B, beta
FOXP3 forkhead box P3
GEM GTP binding protein overexpressed in skeletal muscle
GRAP2 GRB2-related adaptor protein 2
HDAC2 histone deacetylase 2
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-G major histocompatibility complex, class I, G
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
ICOS inducible T-cell co-stimulator
IFNG interferon, gamma
IL10 interleukin 10
IL13 interleukin 13
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
INS insulin
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KRT20 keratin 20, type I
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MBD3 methyl-CpG binding domain protein 3
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP12 matrix metallopeptidase 12
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH4 notch 4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR4A2 nuclear receptor subfamily 4, group A, member 2
NXF1 nuclear RNA export factor 1
PKP3 plakophilin 3
PLAU plasminogen activator, urokinase
PLG plasminogen
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POSTN periostin, osteoblast specific factor
PRKCA protein kinase C, alpha
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RACK1 receptor for activated C kinase 1
RBM45 RNA binding motif protein 45
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPGRIP1L RPGRIP1-like
SEC14L2 SEC14-like 2 (S. cerevisiae)
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SFRP5 secreted frizzled-related protein 5
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SOD1 superoxide dismutase 1, soluble
SPAG16 sperm associated antigen 16
SPP1 secreted phosphoprotein 1
ST18 suppression of tumorigenicity 18, zinc finger
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK19 serine/threonine kinase 19
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila)
SUV39H2 suppressor of variegation 3-9 homolog 2 (Drosophila)
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
TNFRSF9 tumor necrosis factor receptor superfamily, member 9
TP53 tumor protein p53
USO1 USO1 vesicle transport factor
VEGFA vascular endothelial growth factor A
ZEB2 zinc finger E-box binding homeobox 2