Sarcoidosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (Human Disease Ontology, DOID_11335)
External Link https://www.disgenet.org/browser/0/1/0/C0036202
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Genes

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

Symbol Name
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR4 atypical chemokine receptor 4
ACTB actin, beta
ACTN4 actinin, alpha 4
ADA adenosine deaminase
ADAM9 ADAM metallopeptidase domain 9
ADAMDEC1 ADAM-like, decysin 1
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANXA1 annexin A1
ANXA11 annexin A11
ANXA2 annexin A2
APEH acylaminoacyl-peptide hydrolase
APOA1 apolipoprotein A-I
APOM apolipoprotein M
AQP4 aquaporin 4
ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5
ATF6B activating transcription factor 6 beta
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN2 ataxin 2
B2M beta-2-microglobulin
BAG3 BCL2-associated athanogene 3
BBS2 Bardet-Biedl syndrome 2
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTNL2 butyrophilin-like 2
C10ORF67 chromosome 10 open reading frame 67
C1ORF141 chromosome 1 open reading frame 141
C6ORF10 chromosome 6 open reading frame 10
C6ORF15 chromosome 6 open reading frame 15
CASC5 cancer susceptibility candidate 5
CAT catalase
CCL1 chemokine (C-C motif) ligand 1
CCL13 chemokine (C-C motif) ligand 13
CCL15 chemokine (C-C motif) ligand 15
CCL16 chemokine (C-C motif) ligand 16
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
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCL22 chemokine (C-C motif) ligand 22
CCL3 chemokine (C-C motif) ligand 3
CCL5 chemokine (C-C motif) ligand 5
CCL8 chemokine (C-C motif) ligand 8
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR7 chemokine (C-C motif) receptor 7
CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae)
CD14 CD14 molecule
CD163 CD163 molecule
CD200R1 CD200 receptor 1
CD24 CD24 molecule
CD274 CD274 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD68 CD68 molecule
CD69 CD69 molecule
CD80 CD80 molecule
CD86 CD86 molecule
CDH4 cadherin 4, type 1, R-cadherin (retinal)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEL carboxyl ester lipase
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
CIITA class II, major histocompatibility complex, transactivator
CMA1 chymase 1, mast cell
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COX2
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CRP C-reactive protein, pentraxin-related
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL9 cullin 9
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL16 chemokine (C-X-C motif) ligand 16
CXCL5 chemokine (C-X-C motif) ligand 5
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYBB cytochrome b-245, beta polypeptide
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DNAH11 dynein, axonemal, heavy chain 11
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EDN1 endothelin 1
EGR1 early growth response 1
EPHA2 EPH receptor A2
EPHX2 epoxide hydrolase 2, cytoplasmic
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F13A1 coagulation factor XIII, A1 polypeptide
F2R coagulation factor II (thrombin) receptor
FABP4 fatty acid binding protein 4, adipocyte
FAM117B family with sequence similarity 117, member B
FAS Fas cell surface death receptor
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FLNB filamin B, beta
FLT1 fms-related tyrosine kinase 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXP3 forkhead box P3
FSCN1 fascin actin-bundling protein 1
GC group-specific component (vitamin D binding protein)
GLB1 galactosidase, beta 1
GLI1 GLI family zinc finger 1
GLRX glutaredoxin (thioltransferase)
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPR162 G protein-coupled receptor 162
GREM1 gremlin 1, DAN family BMP antagonist
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAVCR1 hepatitis A virus cellular receptor 1
HAVCR2 hepatitis A virus cellular receptor 2
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
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-DMA major histocompatibility complex, class II, DM alpha
HLA-DMB major histocompatibility complex, class II, DM beta
HLA-DOA major histocompatibility complex, class II, DO alpha
HLA-DOB major histocompatibility complex, class II, DO beta
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HP haptoglobin
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA1L heat shock 70kDa protein 1-like
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
IFNA1 interferon, alpha 1
IFNA10 interferon, alpha 10
IFNA13 interferon, alpha 13
IFNA17 interferon, alpha 17
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL11 interleukin 11
IL13 interleukin 13
IL15 interleukin 15
IL17A interleukin 17A
IL17RA interleukin 17 receptor A
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL19 interleukin 19
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL23R interleukin 23 receptor
IL25 interleukin 25
IL2RA interleukin 2 receptor, alpha
IL31 interleukin 31
IL33 interleukin 33
IL4 interleukin 4
IL4I1 interleukin 4 induced 1
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
IL7 interleukin 7
IL7R interleukin 7 receptor
IL9 interleukin 9
IL9R interleukin 9 receptor
ING4 inhibitor of growth family, member 4
INTS4 integrator complex subunit 4
IRF4 interferon regulatory factor 4
IRF5 interferon regulatory factor 5
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
KALRN kalirin, RhoGEF kinase
KDR kinase insert domain receptor
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KRT20 keratin 20, type I
LCN2 lipocalin 2
LGALS1 lectin, galactoside-binding, soluble, 1
LMOD1 leiomodin 1 (smooth muscle)
LOC101060233 medium-wave-sensitive opsin 1
LPA lipoprotein, Lp(a)
LTA lymphotoxin alpha
LYZ lysozyme
MANBA mannosidase, beta A, lysosomal
MAP2K7 mitogen-activated protein kinase kinase 7
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase
MBL2 mannose-binding lectin (protein C) 2, soluble
MCAM melanoma cell adhesion molecule
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIP major intrinsic protein of lens fiber
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MNAT1 MNAT CDK-activating kinase assembly factor 1
MPP1 membrane protein, palmitoylated 1, 55kDa
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MST1 macrophage stimulating 1
MUC1 mucin 1, cell surface associated
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYD88 myeloid differentiation primary response 88
MYDGF myeloid-derived growth factor
NCAM1 neural cell adhesion molecule 1
NCOA3 nuclear receptor coactivator 3
NDC80 NDC80 kinetochore complex component
NOD1 nucleotide-binding oligomerization domain containing 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH4 notch 4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NT5C3A 5'-nucleotidase, cytosolic IIIA
NUCLEOLIN nucleolin multifunctional protein
NUP214 nucleoporin 214kDa
NXF1 nuclear RNA export factor 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OR12D3 olfactory receptor, family 12, subfamily D, member 3
OR5V1 olfactory receptor, family 5, subfamily V, member 1
ORM1 orosomucoid 1
OTUD1 OTU deubiquitinase 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PAM peptidylglycine alpha-amidating monooxygenase
PARP9 poly (ADP-ribose) polymerase family, member 9
PDCD1 programmed cell death 1
PDGFA platelet-derived growth factor alpha polypeptide
PHGDH phosphoglycerate dehydrogenase
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
PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma)
PLA2G1B phospholipase A2, group IB (pancreas)
PLB1 phospholipase B1
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PON1 paraoxonase 1
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRL prolactin
PSMB2 proteasome (prosome, macropain) subunit, beta type, 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTPN23 protein tyrosine phosphatase, non-receptor type 23
RAB23 RAB23, member RAS oncogene family
RBM45 RNA binding motif protein 45
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RIPK2 receptor-interacting serine-threonine kinase 2
RPL17 ribosomal protein L17
RPL17-C18ORF32 RPL17-C18orf32 readthrough
RPL32 ribosomal protein L32
RREB1 ras responsive element binding protein 1
RTN1 reticulon 1
RTN4 reticulon 4
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SAT1 spermidine/spermine N1-acetyltransferase 1
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SEC14L2 SEC14-like 2 (S. cerevisiae)
SEC16A SEC16 homolog A (S. cerevisiae)
SELE selectin E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SGSM3 small G protein signaling modulator 3
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC44A4 solute carrier family 44, member 4
SMAD3 SMAD family member 3
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SOAT1 sterol O-acyltransferase 1
SOCS1 suppressor of cytokine signaling 1
SOD2 superoxide dismutase 2, mitochondrial
SP140 SP140 nuclear body protein
SPATA2 spermatogenesis associated 2
SPECC1 sperm antigen with calponin homology and coiled-coil domains 1
SPP1 secreted phosphoprotein 1
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STK19 serine/threonine kinase 19
TAC1 tachykinin, precursor 1
TACR1 tachykinin receptor 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TCL1A T-cell leukemia/lymphoma 1A
TCL1B T-cell leukemia/lymphoma 1B
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TIMELESS timeless circadian clock
TIMP2 TIMP metallopeptidase inhibitor 2
TLR1 toll-like receptor 1
TLR10 toll-like receptor 10
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR6 toll-like receptor 6
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TMEM131 transmembrane protein 131
TNC tenascin C
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF25 tumor necrosis factor receptor superfamily, member 25
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNNI3 troponin I type 3 (cardiac)
TRH thyrotropin-releasing hormone
TSC2 tuberous sclerosis 2
TSLP thymic stromal lymphopoietin
TWIST1 twist family bHLH transcription factor 1
TYK2 tyrosine kinase 2
USO1 USO1 vesicle transport factor
VARS valyl-tRNA synthetase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIM vimentin
VTCN1 V-set domain containing T cell activation inhibitor 1
WNT3 wingless-type MMTV integration site family, member 3
XAF1 XIAP associated factor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ZFYVE9 zinc finger, FYVE domain containing 9
ZSCAN12 zinc finger and SCAN domain containing 12