non-caseating epithelioid cell granulomatosis Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). (Human Phenotype Ontology, HP_0012220)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0012220
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Genes

108 genes associated with the non-caseating epithelioid cell granulomatosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
ANXA11 annexin A11 1.75035
C6ORF10 chromosome 6 open reading frame 10 1.5037
BTNL2 butyrophilin-like 2 1.47083
CDH4 cadherin 4, type 1, R-cadherin (retinal) 1.10701
ISPD isoprenoid synthase domain containing 1.09906
HLA-DRA major histocompatibility complex, class II, DR alpha 1.04495
PLAC9 placenta-specific 9 1.03647
GRIK4 glutamate receptor, ionotropic, kainate 4 0.942073
AHCY adenosylhomocysteinase 0.937347
MCPH1 microcephalin 1 0.918733
GPA33 glycoprotein A33 (transmembrane) 0.893139
C9ORF171 chromosome 9 open reading frame 171 0.886418
CNTN4 contactin 4 0.881079
PTAR1 protein prenyltransferase alpha subunit repeat containing 1 0.872552
KDM4C lysine (K)-specific demethylase 4C 0.86191
PPTC7 PTC7 protein phosphatase homolog (S. cerevisiae) 0.860376
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.827192
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.802966
RPTOR regulatory associated protein of MTOR, complex 1 0.797124
AGBL1 ATP/GTP binding protein-like 1 0.781192
WWC1 WW and C2 domain containing 1 0.77499
PHACTR2 phosphatase and actin regulator 2 0.766212
GPR75-ASB3 GPR75-ASB3 readthrough 0.765174
SCHIP1 schwannomin interacting protein 1 0.764625
SHANK1 SH3 and multiple ankyrin repeat domains 1 0.760868
DISP2 dispatched homolog 2 (Drosophila) 0.752335
CDK19 cyclin-dependent kinase 19 0.744976
TMEM35 transmembrane protein 35 0.734978
LOC647323 uncharacterized LOC647323 0.7273
UROC1 urocanate hydratase 1 0.725273
LDB2 LIM domain binding 2 0.718314
CNOT2 CCR4-NOT transcription complex, subunit 2 0.717572
AVEN apoptosis, caspase activation inhibitor 0.70533
KIF26B kinesin family member 26B 0.698015
ASIC2 acid sensing (proton gated) ion channel 2 0.691522
PCDH7 protocadherin 7 0.690584
TBC1D22A TBC1 domain family, member 22A 0.690274
LUZP2 leucine zipper protein 2 0.683395
ERLEC1 endoplasmic reticulum lectin 1 0.680552
RYR2 ryanodine receptor 2 (cardiac) 0.679979
PDZRN4 PDZ domain containing ring finger 4 0.678131
SDK2 sidekick cell adhesion molecule 2 0.677826
MS4A15 membrane-spanning 4-domains, subfamily A, member 15 0.67336
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 0.672779
CACNG4 calcium channel, voltage-dependent, gamma subunit 4 0.66742
KTN1 kinectin 1 (kinesin receptor) 0.665245
POU6F2 POU class 6 homeobox 2 0.661032
PCSK6 proprotein convertase subtilisin/kexin type 6 0.659497
LOC339298 uncharacterized LOC339298 0.652869
NUTM1 NUT midline carcinoma, family member 1 0.651923
ASB3 ankyrin repeat and SOCS box containing 3 0.648629
CDCP1 CUB domain containing protein 1 0.64787
PENK proenkephalin 0.644886
FAM169B family with sequence similarity 169, member B 0.643667
LPP LIM domain containing preferred translocation partner in lipoma 0.640327
PRNT prion protein (testis specific) 0.628153
IKZF5 IKAROS family zinc finger 5 (Pegasus) 0.624059
DAAM1 dishevelled associated activator of morphogenesis 1 0.62227
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 0.617083
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.608869
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.603793
KANK1 KN motif and ankyrin repeat domains 1 0.592501
ZBTB7C zinc finger and BTB domain containing 7C 0.59159
NPHP4 nephronophthisis 4 0.591289
AGTR1 angiotensin II receptor, type 1 0.586438
ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa 0.584153
PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L 0.583665
PDZD2 PDZ domain containing 2 0.578934
ARMC9 armadillo repeat containing 9 0.577224
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.576774
TMPRSS4 transmembrane protease, serine 4 0.575658
MYO1D myosin ID 0.574995
FRMD4A FERM domain containing 4A 0.57293
STIM1 stromal interaction molecule 1 0.568635
L3HYPDH L-3-hydroxyproline dehydratase (trans-) 0.566616
GLIS3 GLIS family zinc finger 3 0.560832
SGK223 homolog of rat pragma of Rnd2 0.548586
LINGO2 leucine rich repeat and Ig domain containing 2 0.545167
NNT nicotinamide nucleotide transhydrogenase 0.541991
CALN1 calneuron 1 0.526276
STK32B serine/threonine kinase 32B 0.517529
PTPRM protein tyrosine phosphatase, receptor type, M 0.512008
ZNF385D zinc finger protein 385D 0.512008
BSN bassoon presynaptic cytomatrix protein 0.509159
PLGRKT plasminogen receptor, C-terminal lysine transmembrane protein 0.507344
ZNF451 zinc finger protein 451 0.506242
WWOX WW domain containing oxidoreductase 0.495641
MACROD2 MACRO domain containing 2 0.494506
BEST3 bestrophin 3 0.489852
MORN5 MORN repeat containing 5 0.486693
STMN2 stathmin 2 0.479387
TP73 tumor protein p73 0.476064
ZPBP zona pellucida binding protein 0.475191
MTCH1 mitochondrial carrier 1 0.475047
LOC401324 uncharacterized LOC401324 0.472653
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.468945
FNDC1 fibronectin type III domain containing 1 0.466034
CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) 0.46404
ASTN2 astrotactin 2 0.462746
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.462491
TMEM44 transmembrane protein 44 0.458552
ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 0.458196
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.452592
NTN1 netrin 1 0.45085
MSRA methionine sulfoxide reductase A 0.445915
PRR5L proline rich 5 like 0.443691
MS4A10 membrane-spanning 4-domains, subfamily A, member 10 0.431235
CSMD1 CUB and Sushi multiple domains 1 0.425194