physical disorder Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (Human Disease Ontology, DOID_0080015)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0080015
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Genes

277 genes associated with the disease physical disorder 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 1.38115
IRF6 interferon regulatory factor 6 1.35752
DGKK diacylglycerol kinase, kappa 1.30255
DIEXF digestive organ expansion factor homolog (zebrafish) 1.19687
KIAA1598 1.16308
JAM3 junctional adhesion molecule 3 1.00232
SYT14 synaptotagmin XIV 0.958161
PAX7 paired box 7 0.954656
TRAF3IP3 TRAF3 interacting protein 3 0.946627
NTN1 netrin 1 0.876466
THADA thyroid adenoma associated 0.73683
FILIP1L filamin A interacting protein 1-like 0.646811
ADTRP androgen-dependent TFPI-regulating protein 0.644183
COL8A1 collagen, type VIII, alpha 1 0.641331
ZIC2 Zic family member 2 0.611513
ARHGAP8 Rho GTPase activating protein 8 0.605909
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 0.589598
NKAIN3 Na+/K+ transporting ATPase interacting 3 0.570202
FHIT fragile histidine triad 0.522645
PARD6B par-6 family cell polarity regulator beta 0.522564
TP63 tumor protein p63 0.486609
RHPN2 rhophilin, Rho GTPase binding protein 2 0.486417
MACROD2 MACRO domain containing 2 0.485868
NRG1 neuregulin 1 0.485494
ARHGAP29 Rho GTPase activating protein 29 0.444817
SH3BP4 SH3-domain binding protein 4 0.442803
TXNDC16 thioredoxin domain containing 16 0.441184
EPHA3 EPH receptor A3 0.439655
CSMD1 CUB and Sushi multiple domains 1 0.433818
TTC27 tetratricopeptide repeat domain 27 0.43147
BEST3 bestrophin 3 0.430311
LINC00486 long intergenic non-protein coding RNA 486 0.429365
FMN1 formin 1 0.428493
PCDH7 protocadherin 7 0.426843
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 0.425585
ACOT12 acyl-CoA thioesterase 12 0.425585
LTBP1 latent transforming growth factor beta binding protein 1 0.423725
DOCK2 dedicator of cytokinesis 2 0.423175
RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 0.422054
MTUS1 microtubule associated tumor suppressor 1 0.420835
LOC146880 Rho GTPase activating protein 27 pseudogene 0.420725
KCNK10 potassium channel, two pore domain subfamily K, member 10 0.420671
PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 0.420455
TTR transthyretin 0.41973
CADM1 cell adhesion molecule 1 0.419335
BMP6 bone morphogenetic protein 6 0.419335
CCDC38 coiled-coil domain containing 38 0.419166
SYT17 synaptotagmin XVII 0.418628
FAM49A family with sequence similarity 49, member A 0.418514
KLHL1 kelch-like family member 1 0.418245
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.417269
ATXN3 ataxin 3 0.417062
PAX5 paired box 5 0.416327
NCKAP5 NCK-associated protein 5 0.415754
MAST4 microtubule associated serine/threonine kinase family member 4 0.415507
CHD1L chromodomain helicase DNA binding protein 1-like 0.413719
GRM7 glutamate receptor, metabotropic 7 0.413127
FGFR2 fibroblast growth factor receptor 2 0.411125
FRMD3 FERM domain containing 3 0.410208
C3ORF52 chromosome 3 open reading frame 52 0.410113
FER1L5 fer-1-like family member 5 0.409831
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.409569
CYLD cylindromatosis (turban tumor syndrome) 0.409569
PRSS23 protease, serine, 23 0.40869
OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 0.408569
PRRT3 proline-rich transmembrane protein 3 0.408097
SMCO4 single-pass membrane protein with coiled-coil domains 4 0.407725
PPP2R5C protein phosphatase 2, regulatory subunit B', gamma 0.407465
PRTG protogenin 0.407465
PBX1 pre-B-cell leukemia homeobox 1 0.407337
NELL1 NEL-like 1 (chicken) 0.407337
NCOR2 nuclear receptor corepressor 2 0.406711
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.406229
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.405762
TRAPPC11 trafficking protein particle complex 11 0.404654
ZFHX3 zinc finger homeobox 3 0.404337
RGS6 regulator of G-protein signaling 6 0.404337
OR5R1 olfactory receptor, family 5, subfamily R, member 1 (gene/pseudogene) 0.403424
TRIO trio Rho guanine nucleotide exchange factor 0.402846
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 0.402565
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 0.402472
PTPRD protein tyrosine phosphatase, receptor type, D 0.402108
KLHL26 kelch-like family member 26 0.401752
NINJ2 ninjurin 2 0.40149
LVRN laeverin 0.401404
CD247 CD247 molecule 0.400981
ANKRD18CP ankyrin repeat domain 18C, pseudogene 0.400815
USP31 ubiquitin specific peptidase 31 0.400733
LAMA1 laminin, alpha 1 0.400489
A1CF APOBEC1 complementation factor 0.399857
NTNG1 netrin G1 0.399703
FAM227B family with sequence similarity 227, member B 0.39925
SEC16A SEC16 homolog A (S. cerevisiae) 0.398456
POU5F1 POU class 5 homeobox 1 0.398316
RBM20 RNA binding motif protein 20 0.397971
TCP11L2 t-complex 11, testis-specific-like 2 0.397903
GPR137C G protein-coupled receptor 137C 0.397635
FGFBP1 fibroblast growth factor binding protein 1 0.397568
ZNF608 zinc finger protein 608 0.397568
FHOD3 formin homology 2 domain containing 3 0.397502
SOX5 SRY (sex determining region Y)-box 5 0.397306
TKT transketolase 0.396323
RYR2 ryanodine receptor 2 (cardiac) 0.39618
CTNND2 catenin (cadherin-associated protein), delta 2 0.395827
NFRKB nuclear factor related to kappaB binding protein 0.395619
LINC00536 long intergenic non-protein coding RNA 536 0.39521
PPP4R4 protein phosphatase 4, regulatory subunit 4 0.395075
PALLD palladin, cytoskeletal associated protein 0.395009
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 0.394549
KALRN kalirin, RhoGEF kinase 0.393851
CNTN6 contactin 6 0.39336
ENO4 enolase family member 4 0.39312
OR9G1 olfactory receptor, family 9, subfamily G, member 1 0.392766
HCG9 HLA complex group 9 (non-protein coding) 0.392306
PRICKLE1 prickle homolog 1 (Drosophila) 0.391747
DOCK8 dedicator of cytokinesis 8 0.391692
SCG5 secretogranin V 0.391367
NCOA2 nuclear receptor coactivator 2 0.390324
CLYBL citrate lyase beta like 0.389925
SKINTL Skint-like, pseudogene 0.389876
PMM2 phosphomannomutase 2 0.389876
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.389827
DLG2 discs, large homolog 2 (Drosophila) 0.389439
KIF6 kinesin family member 6 0.389343
PID1 phosphotyrosine interaction domain containing 1 0.389295
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.389013
ITGAV integrin, alpha V 0.38878
SUGP2 SURP and G patch domain containing 2 0.388688
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.388551
PTPRM protein tyrosine phosphatase, receptor type, M 0.388461
DLC1 DLC1 Rho GTPase activating protein 0.388236
GIPC3 GIPC PDZ domain containing family, member 3 0.387926
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.387926
CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 0.387839
GPR39 G protein-coupled receptor 39 0.387665
DLG1 discs, large homolog 1 (Drosophila) 0.387622
BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 0.387579
MSX2 msh homeobox 2 0.387408
KREMEN1 kringle containing transmembrane protein 1 0.387366
PDE10A phosphodiesterase 10A 0.387324
SCN10A sodium channel, voltage gated, type X alpha subunit 0.386989
SECISBP2L SECIS binding protein 2-like 0.386742
LIMCH1 LIM and calponin homology domains 1 0.385712
MVB12B multivesicular body subunit 12B 0.385408
SHROOM3 shroom family member 3 0.385109
SAP30BP SAP30 binding protein 0.384779
ZNF385B zinc finger protein 385B 0.384706
MIR31HG MIR31 host gene 0.384634
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.384562
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 0.384332
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 0.384214
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 0.384097
WDR46 WD repeat domain 46 0.384058
NFIB nuclear factor I/B 0.383673
PDE8B phosphodiesterase 8B 0.383635
IGSF11 immunoglobulin superfamily, member 11 0.383484
CCNY cyclin Y 0.383446
PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 0.383297
OR8K1 olfactory receptor, family 8, subfamily K, member 1 0.383297
EML6 echinoderm microtubule associated protein like 6 0.383074
ASIC2 acid sensing (proton gated) ion channel 2 0.382891
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.382891
PHF1 PHD finger protein 1 0.382855
MROH2A maestro heat-like repeat family member 2A 0.382855
TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 0.382818
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.382637
ABI3BP ABI family, member 3 (NESH) binding protein 0.382246
SGSM2 small G protein signaling modulator 2 0.382211
PTPRT protein tyrosine phosphatase, receptor type, T 0.382036
ZNF618 zinc finger protein 618 0.382001
FBXL17 F-box and leucine-rich repeat protein 17 0.381932
CDYL chromodomain protein, Y-like 0.381897
LOC100132891 0.381691
EXPH5 exophilin 5 0.381589
SLIT3 slit homolog 3 (Drosophila) 0.381555
FAXC failed axon connections homolog (Drosophila) 0.381319
LARP1 La ribonucleoprotein domain family, member 1 0.381252
FLT4 fms-related tyrosine kinase 4 0.381219
UBQLN1 ubiquilin 1 0.381186
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 0.381053
FRMD4B FERM domain containing 4B 0.38102
ASTN2 astrotactin 2 0.380791
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 0.380726
TTL tubulin tyrosine ligase 0.380694
GLP1R glucagon-like peptide 1 receptor 0.380694
FAM187B family with sequence similarity 187, member B 0.380405
PON2 paraoxonase 2 0.380309
NLGN1 neuroligin 1 0.380152
AASS aminoadipate-semialdehyde synthase 0.379964
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.379964
ENDOD1 endonuclease domain containing 1 0.379871
SPOCD1 SPOC domain containing 1 0.379625
MAP2K5 mitogen-activated protein kinase kinase 5 0.379382
DNAH11 dynein, axonemal, heavy chain 11 0.379352
HFE hemochromatosis 0.379232
KCNIP1 Kv channel interacting protein 1 0.379173
PRR16 proline rich 16 0.379054
ZNF839 zinc finger protein 839 0.378936
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 0.37879
CNGB3 cyclic nucleotide gated channel beta 3 0.378644
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.378558
ECSIT ECSIT signalling integrator 0.378329
ZMYND8 zinc finger, MYND-type containing 8 0.3783
HABP2 hyaluronan binding protein 2 0.378187
DOK5 docking protein 5 0.378075
NR5A2 nuclear receptor subfamily 5, group A, member 2 0.377495
USP45 ubiquitin specific peptidase 45 0.377495
ZFP57 ZFP57 zinc finger protein 0.377306
THEM5 thioesterase superfamily member 5 0.377172
LOC643542 uncharacterized LOC643542 0.377145
DSCAML1 Down syndrome cell adhesion molecule like 1 0.377119
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.377065
PTGFR prostaglandin F receptor (FP) 0.376986
AXIN1 axin 1 0.376933
FUT2 fucosyltransferase 2 (secretor status included) 0.376516
PRKCB protein kinase C, beta 0.375934
ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 0.375884
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.375859
MINK1 misshapen-like kinase 1 0.375662
GRHL3 grainyhead-like 3 (Drosophila) 0.375637
PACRG PARK2 co-regulated 0.375613
TGM6 transglutaminase 6 0.375297
DOCK4 dedicator of cytokinesis 4 0.375129
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 0.375058
PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A 0.374987
HS6ST1 heparan sulfate 6-O-sulfotransferase 1 0.374705
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 0.374681
FAT1 FAT atypical cadherin 1 0.374565
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.374313
OSBPL3 oxysterol binding protein-like 3 0.374199
C1S complement component 1, s subcomponent 0.374199
ANXA10 annexin A10 0.374199
FMN2 formin 2 0.374199
LOC284395 uncharacterized LOC284395 0.374154
LINGO2 leucine rich repeat and Ig domain containing 2 0.374086
PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 0.374019
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 0.373796
PHACTR2 phosphatase and actin regulator 2 0.373686
ASCC3 activating signal cointegrator 1 complex subunit 3 0.373686
FRMD1 FERM domain containing 1 0.373664
ITPKB inositol-trisphosphate 3-kinase B 0.37362
PLXDC2 plexin domain containing 2 0.37362
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.37338
LRRIQ3 leucine-rich repeats and IQ motif containing 3 0.373337
LOC284294 uncharacterized LOC284294 0.373207
CHRM5 cholinergic receptor, muscarinic 5 0.3731
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.372994
CIDEA cell death-inducing DFFA-like effector a 0.372973
SYNGR1 synaptogyrin 1 0.372952
PARD3 par-3 family cell polarity regulator 0.372889
DYSF dysferlin 0.372846
ZNF831 zinc finger protein 831 0.372658
LOC285768 uncharacterized LOC285768 0.372513
PDZD2 PDZ domain containing 2 0.372308
TMEM30C transmembrane protein 30C 0.372267
C1ORF198 chromosome 1 open reading frame 198 0.372247
WWOX WW domain containing oxidoreductase 0.372206
NCAM1 neural cell adhesion molecule 1 0.372145
FMO5 flavin containing monooxygenase 5 0.372045
MMP16 matrix metallopeptidase 16 (membrane-inserted) 0.371825
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.371805
SH3GL3 SH3-domain GRB2-like 3 0.371785
LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 0.371706
PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta 0.371529
MYO3B myosin IIIB 0.371143
FAM124A family with sequence similarity 124A 0.371066
ARHGEF26-AS1 ARHGEF26 antisense RNA 1 0.370911
LOC100505940 0.370362
PRKG1 protein kinase, cGMP-dependent, type I 0.37017
UNQ6494 uncharacterized LOC100129066 0.369605
C2ORF91 chromosome 2 open reading frame 91 0.367009
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.364588
SMAP2 small ArfGAP2 0.35858
DAAM2 dishevelled associated activator of morphogenesis 2 0.349005
DGKG diacylglycerol kinase, gamma 90kDa 0.344576
TMCO4 transmembrane and coiled-coil domains 4 0.338497
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 0.320673