orofacial cleft Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050567
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Genes

276 genes associated with the disease orofacial cleft in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.67004
IRF6 interferon regulatory factor 6 1.67004
KIAA1598 1.60174
DIEXF digestive organ expansion factor homolog (zebrafish) 1.58192
PAX7 paired box 7 1.44134
TRAF3IP3 TRAF3 interacting protein 3 1.43453
THADA thyroid adenoma associated 1.42467
JAM3 junctional adhesion molecule 3 1.39664
ADTRP androgen-dependent TFPI-regulating protein 1.35834
NTN1 netrin 1 1.28906
SYT14 synaptotagmin XIV 1.28462
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 1.24194
ARHGAP29 Rho GTPase activating protein 29 1.23169
SH3BP4 SH3-domain binding protein 4 1.21996
TXNDC16 thioredoxin domain containing 16 1.21019
EPHA3 EPH receptor A3 1.20096
FILIP1L filamin A interacting protein 1-like 1.19386
ZIC2 Zic family member 2 1.19386
CSMD1 CUB and Sushi multiple domains 1 1.16713
COL8A1 collagen, type VIII, alpha 1 1.1576
TTC27 tetratricopeptide repeat domain 27 1.15288
BEST3 bestrophin 3 1.14463
ARHGAP8 Rho GTPase activating protein 8 1.14463
LINC00486 long intergenic non-protein coding RNA 486 1.138
FMN1 formin 1 1.13127
PCDH7 protocadherin 7 1.11813
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 1.10764
ACOT12 acyl-CoA thioesterase 12 1.10764
LTBP1 latent transforming growth factor beta binding protein 1 1.09196
DOCK2 dedicator of cytokinesis 2 1.08698
RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 1.07599
MTUS1 microtubule associated tumor suppressor 1 1.06431
LOC146880 Rho GTPase activating protein 27 pseudogene 1.06327
KCNK10 potassium channel, two pore domain subfamily K, member 10 1.06275
PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 1.06059
NKAIN3 Na+/K+ transporting ATPase interacting 3 1.05601
CADM1 cell adhesion molecule 1 1.04846
BMP6 bone morphogenetic protein 6 1.04846
CCDC38 coiled-coil domain containing 38 1.04666
SYT17 synaptotagmin XVII 1.04096
FAM49A family with sequence similarity 49, member A 1.03976
KLHL1 kelch-like family member 1 1.03695
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 1.02684
ATXN3 ataxin 3 1.02476
PAX5 paired box 5 1.01746
NCKAP5 NCK-associated protein 5 1.01185
MAST4 microtubule associated serine/threonine kinase family member 4 1.00945
FHIT fragile histidine triad 1.00407
CHD1L chromodomain helicase DNA binding protein 1-like 0.992121
GRM7 glutamate receptor, metabotropic 7 0.986376
FGFR2 fibroblast growth factor receptor 2 0.967464
FRMD3 FERM domain containing 3 0.959328
FER1L5 fer-1-like family member 5 0.95603
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.953745
CYLD cylindromatosis (turban tumor syndrome) 0.953745
PRSS23 protease, serine, 23 0.946163
OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 0.945129
PRRT3 proline-rich transmembrane protein 3 0.941109
SMCO4 single-pass membrane protein with coiled-coil domains 4 0.938237
PRTG protogenin 0.93638
PPP2R5C protein phosphatase 2, regulatory subunit B', gamma 0.93638
PBX1 pre-B-cell leukemia homeobox 1 0.935465
NELL1 NEL-like 1 (chicken) 0.935465
NCOR2 nuclear receptor corepressor 2 0.93103
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.927636
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.92437
TRAPPC11 trafficking protein particle complex 11 0.916706
RGS6 regulator of G-protein signaling 6 0.914528
ZFHX3 zinc finger homeobox 3 0.914528
OR5R1 olfactory receptor, family 5, subfamily R, member 1 (gene/pseudogene) 0.907791
TRIO trio Rho guanine nucleotide exchange factor 0.903565
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 0.901524
PTPRD protein tyrosine phosphatase, receptor type, D 0.898225
KLHL26 kelch-like family member 26 0.895671
NINJ2 ninjurin 2 0.893803
LVRN laeverin 0.893189
CD247 CD247 molecule 0.890183
ANKRD18CP ankyrin repeat domain 18C, pseudogene 0.889009
USP31 ubiquitin specific peptidase 31 0.888428
LAMA1 laminin, alpha 1 0.886521
A1CF APOBEC1 complementation factor 0.881544
NTNG1 netrin G1 0.88034
FAM227B family with sequence similarity 227, member B 0.876818
SEC16A SEC16 homolog A (S. cerevisiae) 0.870688
POU5F1 POU class 5 homeobox 1 0.869616
RBM20 RNA binding motif protein 20 0.866989
TCP11L2 t-complex 11, testis-specific-like 2 0.866472
GPR137C G protein-coupled receptor 137C 0.864435
ZNF608 zinc finger protein 608 0.863933
FGFBP1 fibroblast growth factor binding protein 1 0.863933
FHOD3 formin homology 2 domain containing 3 0.863433
SOX5 SRY (sex determining region Y)-box 5 0.861951
TKT transketolase 0.854796
RYR2 ryanodine receptor 2 (cardiac) 0.853791
CTNND2 catenin (cadherin-associated protein), delta 2 0.851323
LINC00536 long intergenic non-protein coding RNA 536 0.847035
PPP4R4 protein phosphatase 4, regulatory subunit 4 0.846107
PARD6B par-6 family cell polarity regulator beta 0.840288
KALRN kalirin, RhoGEF kinase 0.837718
CNTN6 contactin 6 0.834397
ENO4 enolase family member 4 0.832779
OR9G1 olfactory receptor, family 9, subfamily G, member 1 0.830304
HCG9 HLA complex group 9 (non-protein coding) 0.826866
PRICKLE1 prickle homolog 1 (Drosophila) 0.822728
DOCK8 dedicator of cytokinesis 8 0.822323
SCG5 secretogranin V 0.819929
NCOA2 nuclear receptor coactivator 2 0.812342
SKINTL Skint-like, pseudogene 0.809109
PMM2 phosphomannomutase 2 0.809109
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.808756
DLG2 discs, large homolog 2 (Drosophila) 0.80598
KIF6 kinesin family member 6 0.805298
PID1 phosphotyrosine interaction domain containing 1 0.804959
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.802948
ITGAV integrin, alpha V 0.801304
SUGP2 SURP and G patch domain containing 2 0.800621
RHPN2 rhophilin, Rho GTPase binding protein 2 0.799531
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.799531
PTPRM protein tyrosine phosphatase, receptor type, M 0.798811
MACROD2 MACRO domain containing 2 0.798811
DLC1 DLC1 Rho GTPase activating protein 0.797032
GIPC3 GIPC PDZ domain containing family, member 3 0.794591
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.794591
CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 0.793904
GPR39 G protein-coupled receptor 39 0.792543
DLG1 discs, large homolog 1 (Drosophila) 0.792205
BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 0.791869
MSX2 msh homeobox 2 0.790534
KREMEN1 kringle containing transmembrane protein 1 0.790203
PDE10A phosphodiesterase 10A 0.789873
SCN10A sodium channel, voltage gated, type X alpha subunit 0.787271
SECISBP2L SECIS binding protein 2-like 0.785362
NRG1 neuregulin 1 0.778061
LIMCH1 LIM and calponin homology domains 1 0.777475
MVB12B multivesicular body subunit 12B 0.775167
SAP30BP SAP30 binding protein 0.77043
ZNF385B zinc finger protein 385B 0.769887
MIR31HG MIR31 host gene 0.769347
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.768778
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 0.766993
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 0.766112
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 0.765238
WDR46 WD repeat domain 46 0.764948
PDE8B phosphodiesterase 8B 0.761811
IGSF11 immunoglobulin superfamily, member 11 0.760692
CCNY cyclin Y 0.760414
PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 0.75931
OR8K1 olfactory receptor, family 8, subfamily K, member 1 0.75931
EML6 echinoderm microtubule associated protein like 6 0.757675
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.756331
ASIC2 acid sensing (proton gated) ion channel 2 0.756331
MROH2A maestro heat-like repeat family member 2A 0.756064
PHF1 PHD finger protein 1 0.756064
TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 0.755798
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.754478
ABI3BP ABI family, member 3 (NESH) binding protein 0.751629
TP63 tumor protein p63 0.751629
SGSM2 small G protein signaling modulator 2 0.751374
PTPRT protein tyrosine phosphatase, receptor type, T 0.750108
ZNF618 zinc finger protein 618 0.749856
FBXL17 F-box and leucine-rich repeat protein 17 0.749355
CDYL chromodomain protein, Y-like 0.749105
LOC100132891 0.747619
EXPH5 exophilin 5 0.746884
FAXC failed axon connections homolog (Drosophila) 0.744948
LARP1 La ribonucleoprotein domain family, member 1 0.74447
UBQLN1 ubiquilin 1 0.743993
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 0.743048
FRMD4B FERM domain containing 4B 0.742812
ASTN2 astrotactin 2 0.741181
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 0.74072
TTL tubulin tyrosine ligase 0.74049
GLP1R glucagon-like peptide 1 receptor 0.74049
FAM187B family with sequence similarity 187, member B 0.738443
NLGN1 neuroligin 1 0.736658
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.735265
AASS aminoadipate-semialdehyde synthase 0.735265
ENDOD1 endonuclease domain containing 1 0.73454
SPOCD1 SPOC domain containing 1 0.732629
MAP2K5 mitogen-activated protein kinase kinase 5 0.73075
DNAH11 dynein, axonemal, heavy chain 11 0.730518
HFE hemochromatosis 0.729592
KCNIP1 Kv channel interacting protein 1 0.729132
PRR16 proline rich 16 0.728218
ZNF839 zinc finger protein 839 0.727312
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 0.726189
CNGB3 cyclic nucleotide gated channel beta 3 0.725078
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.724417
ECSIT ECSIT signalling integrator 0.722673
ZMYND8 zinc finger, MYND-type containing 8 0.722457
HABP2 hyaluronan binding protein 2 0.721597
DOK5 docking protein 5 0.720744
NR5A2 nuclear receptor subfamily 5, group A, member 2 0.716372
USP45 ubiquitin specific peptidase 45 0.716372
ZFP57 ZFP57 zinc finger protein 0.714954
THEM5 thioesterase superfamily member 5 0.713952
LOC643542 uncharacterized LOC643542 0.713752
DSCAML1 Down syndrome cell adhesion molecule like 1 0.713553
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.713157
PTGFR prostaglandin F receptor (FP) 0.712564
AXIN1 axin 1 0.712171
FUT2 fucosyltransferase 2 (secretor status included) 0.709078
PRKCB protein kinase C, beta 0.704784
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.704237
MINK1 misshapen-like kinase 1 0.70279
GRHL3 grainyhead-like 3 (Drosophila) 0.702611
PACRG PARK2 co-regulated 0.702432
TGM6 transglutaminase 6 0.700141
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 0.698413
PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A 0.697901
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 0.695708
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.693072
OSBPL3 oxysterol binding protein-like 3 0.692261
C1S complement component 1, s subcomponent 0.692261
ANXA10 annexin A10 0.692261
FMN2 formin 2 0.692261
LOC284395 uncharacterized LOC284395 0.691939
LINGO2 leucine rich repeat and Ig domain containing 2 0.691457
PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 0.690978
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 0.689397
ASCC3 activating signal cointegrator 1 complex subunit 3 0.688615
PHACTR2 phosphatase and actin regulator 2 0.688615
FRMD1 FERM domain containing 1 0.688459
ITPKB inositol-trisphosphate 3-kinase B 0.688149
PLXDC2 plexin domain containing 2 0.688149
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.686457
LRRIQ3 leucine-rich repeats and IQ motif containing 3 0.686153
LOC284294 uncharacterized LOC284294 0.685245
CHRM5 cholinergic receptor, muscarinic 5 0.684494
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.683749
CIDEA cell death-inducing DFFA-like effector a 0.683601
SYNGR1 synaptogyrin 1 0.683452
PARD3 par-3 family cell polarity regulator 0.683009
ZNF831 zinc finger protein 831 0.681401
LOC285768 uncharacterized LOC285768 0.680391
PDZD2 PDZ domain containing 2 0.678965
TMEM30C transmembrane protein 30C 0.678682
C1ORF198 chromosome 1 open reading frame 198 0.678541
WWOX WW domain containing oxidoreductase 0.678259
NCAM1 neural cell adhesion molecule 1 0.677839
FMO5 flavin containing monooxygenase 5 0.677141
MMP16 matrix metallopeptidase 16 (membrane-inserted) 0.675623
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.675487
SH3GL3 SH3-domain GRB2-like 3 0.67535
LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 0.674805
PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta 0.67359
MYO3B myosin IIIB 0.670943
FAM124A family with sequence similarity 124A 0.670464
ARHGEF26-AS1 ARHGEF26 antisense RNA 1 0.669646
LOC100505940 0.666845
PRKG1 protein kinase, cGMP-dependent, type I 0.665868
UNQ6494 uncharacterized LOC100129066 0.663004
C2ORF91 chromosome 2 open reading frame 91 0.650043
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.640498
SMAP2 small ArfGAP2 0.619466
DAAM2 dishevelled associated activator of morphogenesis 2 0.587316
DGKG diacylglycerol kinase, gamma 90kDa 0.571418
TMCO4 transmembrane and coiled-coil domains 4 0.550718
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 0.497038
TTR transthyretin 0.47688
C3ORF52 chromosome 3 open reading frame 52 0.469906
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 0.464754
NFRKB nuclear factor related to kappaB binding protein 0.459891
PALLD palladin, cytoskeletal associated protein 0.459496
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 0.459197
CLYBL citrate lyase beta like 0.45569
SHROOM3 shroom family member 3 0.451723
NFIB nuclear factor I/B 0.450463
SLIT3 slit homolog 3 (Drosophila) 0.448544
FLT4 fms-related tyrosine kinase 4 0.448239
PON2 paraoxonase 2 0.447415
ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 0.443402
DOCK4 dedicator of cytokinesis 4 0.442696
HS6ST1 heparan sulfate 6-O-sulfotransferase 1 0.442288
FAT1 FAT atypical cadherin 1 0.442154
DYSF dysferlin 0.440499