myopathy Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (Human Disease Ontology, DOID_423)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:423
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Genes

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

Symbol Name Standardized Value
CETP cholesteryl ester transfer protein, plasma 2.01982
GCKR glucokinase (hexokinase 4) regulator 1.7849
LPA lipoprotein, Lp(a) 1.50906
APOC1 apolipoprotein C-I 1.50423
SLCO1B1 solute carrier organic anion transporter family, member 1B1 1.48714
BUD13 BUD13 homolog (S. cerevisiae) 1.44916
CLMN calmin (calponin-like, transmembrane) 1.39396
GPN1 GPN-loop GTPase 1 1.36994
LPL lipoprotein lipase 1.36098
IFT172 intraflagellar transport 172 1.35469
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 1.3436
ZNF512 zinc finger protein 512 1.34276
APOE apolipoprotein E 1.34112
ZPR1 ZPR1 zinc finger 1.32709
C2ORF16 chromosome 2 open reading frame 16 1.32233
ASB18 ankyrin repeat and SOCS box containing 18 1.28906
LOC339975 uncharacterized LOC339975 1.28906
APOA5 apolipoprotein A-V 1.28689
GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa 1.2712
DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta 1.24194
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.22607
PRDM16 PR domain containing 16 1.14463
TTC7A tetratricopeptide repeat domain 7A 1.14463
SOX5 SRY (sex determining region Y)-box 5 1.14463
ISPD isoprenoid synthase domain containing 1.12892
FADS2 fatty acid desaturase 2 1.11485
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.10419
FADS1 fatty acid desaturase 1 1.09167
ADGRB3 adhesion G protein-coupled receptor B3 1.07599
APOC1P1 apolipoprotein C-I pseudogene 1 1.07307
SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3 1.02945
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 1.02731
COBLL1 cordon-bleu WH2 repeat protein-like 1 1.02476
CNTNAP5 contactin associated protein-like 5 1.02476
FNDC4 fibronectin type III domain containing 4 1.02476
PRIM2 primase, DNA, polypeptide 2 (58kDa) 1.01185
GLIS1 GLIS family zinc finger 1 0.986376
SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 0.980012
ARL15 ADP-ribosylation factor-like 15 0.958374
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.947208
IQCK IQ motif containing K 0.947208
LIPC lipase, hepatic 0.947208
HOTTIP HOXA distal transcript antisense RNA 0.947208
MYRF myelin regulatory factor 0.947208
ANTXR1 anthrax toxin receptor 1 0.937304
ATXN1 ataxin 1 0.937304
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 0.928472
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.928472
PPM1G protein phosphatase, Mg2+/Mn2+ dependent, 1G 0.928472
MLXIPL MLX interacting protein-like 0.928472
GRM3 glutamate receptor, metabotropic 3 0.928472
SNX17 sorting nexin 17 0.920453
ZNF513 zinc finger protein 513 0.920453
NRBP1 nuclear receptor binding protein 1 0.920453
DCPS decapping enzyme, scavenger 0.920453
KIF16B kinesin family member 16B 0.920453
FBXL7 F-box and leucine-rich repeat protein 7 0.912987
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.912987
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.912987
GPRC5B G protein-coupled receptor, class C, group 5, member B 0.905653
IGF1 insulin-like growth factor 1 (somatomedin C) 0.898875
COL13A1 collagen, type XIII, alpha 1 0.892579
KIAA0319 KIAA0319 0.892579
TMEM258 transmembrane protein 258 0.892579
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.892579
MCF2L2 MCF.2 cell line derived transforming sequence-like 2 0.88034
ZBBX zinc finger, B-box domain containing 0.88034
KAT2B K(lysine) acetyltransferase 2B 0.869084
SH3BP4 SH3-domain binding protein 4 0.863933
ELOVL5 ELOVL fatty acid elongase 5 0.863933
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.863933
MICA MHC class I polypeptide-related sequence A 0.853791
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.848917
SETD5 SET domain containing 5 0.848917
FEN1 flap structure-specific endonuclease 1 0.844278
LRRC49 leucine rich repeat containing 49 0.844278
LDLR low density lipoprotein receptor 0.839855
ASTN2 astrotactin 2 0.831584
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.831584
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.831584
RIMS1 regulating synaptic membrane exocytosis 1 0.831584
FHIT fragile histidine triad 0.823134
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.823134
MTMR2 myotubularin related protein 2 0.819144
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 0.815307
NRDE2 NRDE-2, necessary for RNA interference, domain containing 0.815307
KHDC1L KH homology domain containing 1-like 0.811614
KDM4B lysine (K)-specific demethylase 4B 0.811614
NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 0.811614
SLC38A4 solute carrier family 38, member 4 0.811614
CLNK cytokine-dependent hematopoietic cell linker 0.808055
UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 0.804621
ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 0.801304
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.801304
TEAD3 TEA domain family member 3 0.79774
MATN2 matrilin 2 0.781342
AMPD3 adenosine monophosphate deaminase 3 0.781342
DGKI diacylglycerol kinase, iota 0.781342
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.781342
GAB1 GRB2-associated binding protein 1 0.778355
SOSTDC1 sclerostin domain containing 1 0.772631
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.769887
TPTE2P6 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 0.769887
CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit 0.766993
ADGRG5 adhesion G protein-coupled receptor G5 0.764084
KPNA5 karyopherin alpha 5 (importin alpha 6) 0.764084
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.76125
THAP10 THAP domain containing 10 0.758489
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 0.758489
TBL2 transducin (beta)-like 2 0.758489
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.750612
NRXN2 neurexin 2 0.750612
MSH5 mutS homolog 5 0.750612
PACRG PARK2 co-regulated 0.748112
TBXAS1 thromboxane A synthase 1 (platelet) 0.748112
PRICKLE2 prickle homolog 2 (Drosophila) 0.74567
APOB apolipoprotein B 0.743283
TULP1 tubby like protein 1 0.743283
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.743283
NPAS3 neuronal PAS domain protein 3 0.743283
FOXP1 forkhead box P1 0.74095
BAZ1B bromodomain adjacent to zinc finger domain, 1B 0.74095
STAU2 staufen double-stranded RNA binding protein 2 0.74095
SP140 SP140 nuclear body protein 0.74095
COL5A3 collagen, type V, alpha 3 0.734059
ZNF217 zinc finger protein 217 0.731685
CCT5 chaperonin containing TCP1, subunit 5 (epsilon) 0.731685
TMEM159 transmembrane protein 159 0.729362
USP6NL USP6 N-terminal like 0.729362
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 0.729362
L3MBTL4 l(3)mbt-like 4 (Drosophila) 0.727087
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.727087
GRAP2 GRB2-related adaptor protein 2 0.720532
MACROD2 MACRO domain containing 2 0.718432
DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 0.716372
TM4SF4 transmembrane 4 L six family member 4 0.71042
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 0.699446
TMC1 transmembrane channel-like 1 0.692747
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.692747
FOXN3 forkhead box N3 0.689554
DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 0.689554
SLC22A23 solute carrier family 22, member 23 0.687994
KLHDC7A kelch domain containing 7A 0.687994
GADL1 glutamate decarboxylase-like 1 0.687994
TCTEX1D1 Tctex1 domain containing 1 0.687994
LARP6 La ribonucleoprotein domain family, member 6 0.684944
PCSK5 proprotein convertase subtilisin/kexin type 5 0.683452
DOCK1 dedicator of cytokinesis 1 0.681983
MIOS missing oocyte, meiosis regulator, homolog (Drosophila) 0.677699
KDM1B lysine (K)-specific demethylase 1B 0.677699
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 0.677699
SMYD3 SET and MYND domain containing 3 0.677699
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.677699
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 0.669849
AKAP13 A kinase (PRKA) anchor protein 13 0.43412
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 0.418237
BAG3 BCL2-associated athanogene 3 0.406304
CHN2 chimerin 2 0.37243
TRHR thyrotropin-releasing hormone receptor 0.37196
ZBTB17 zinc finger and BTB domain containing 17 0.364313
RYR1 ryanodine receptor 1 (skeletal) 0.344196
COL17A1 collagen, type XVII, alpha 1 0.337331
HCG22 HLA complex group 22 0.329069
ESRRG estrogen-related receptor gamma 0.320318
RUNX1 runt-related transcription factor 1 0.314549
ADD2 adducin 2 (beta) 0.312072
LMNTD2 lamin tail domain containing 2 0.308824
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.304659
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.29914
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.296563
FGF1 fibroblast growth factor 1 (acidic) 0.294775
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.289391
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.286369
WWOX WW domain containing oxidoreductase 0.285611
CNKSR3 CNKSR family member 3 0.283528
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.281662
EXT1 exostosin glycosyltransferase 1 0.277651
PAIP2B poly(A) binding protein interacting protein 2B 0.277245
ZNF204P zinc finger protein 204, pseudogene 0.273732
C12ORF40 chromosome 12 open reading frame 40 0.273373
RBMS3 RNA binding motif, single stranded interacting protein 3 0.273152
FBXL18 F-box and leucine-rich repeat protein 18 0.271774
DYSF dysferlin 0.270659
PHF11 PHD finger protein 11 0.267953
PLCL1 phospholipase C-like 1 0.265141
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.264912
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.260952
AKAP6 A kinase (PRKA) anchor protein 6 0.260933
TSPAN9 tetraspanin 9 0.260741
KRT82 keratin 82, type II 0.260218
TDP2 tyrosyl-DNA phosphodiesterase 2 0.258953
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.257376
SHISA9 shisa family member 9 0.256343
ARMC2 armadillo repeat containing 2 0.254153
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 0.254153
NCAM2 neural cell adhesion molecule 2 0.251829
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.251327
APOL3 apolipoprotein L, 3 0.251327
MRC2 mannose receptor, C type 2 0.251327
NUDCD1 NudC domain containing 1 0.251203
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.250959
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.249126
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.246708
NRP1 neuropilin 1 0.246614
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.245187
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.242804
CALCR calcitonin receptor 0.241731
OFCC1 orofacial cleft 1 candidate 1 0.241662
KRT84 keratin 84, type II 0.241593
VWC2L von Willebrand factor C domain containing protein 2-like 0.239115
ZNF618 zinc finger protein 618 0.237226
SCARA3 scavenger receptor class A, member 3 0.236966
SLIT2 slit homolog 2 (Drosophila) 0.236812
CSMD2 CUB and Sushi multiple domains 2 0.236608
TASP1 taspase, threonine aspartase, 1 0.236558
DPYD dihydropyrimidine dehydrogenase 0.235725
NXPH1 neurexophilin 1 0.235582
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.2353
DNAH9 dynein, axonemal, heavy chain 9 0.234978
OPCML opioid binding protein/cell adhesion molecule-like 0.234796
OTOGL otogelin-like 0.233918
ULK4 unc-51 like kinase 4 0.233497
SLC35F3 solute carrier family 35, member F3 0.232489
MCTP2 multiple C2 domains, transmembrane 2 0.23218
SEZ6L seizure related 6 homolog (mouse)-like 0.231578
LOC145845 uncharacterized LOC145845 0.231431
C16ORF45 chromosome 16 open reading frame 45 0.230302
THRB thyroid hormone receptor, beta 0.230133
RHPN2 rhophilin, Rho GTPase binding protein 2 0.230133
NELL1 NEL-like 1 (chicken) 0.230099
NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 0.229775
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.229703
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.22949
XDH xanthine dehydrogenase 0.22914
F13A1 coagulation factor XIII, A1 polypeptide 0.228934
ATP10B ATPase, class V, type 10B 0.228764
FRMD4A FERM domain containing 4A 0.22873
DEXI Dexi homolog (mouse) 0.228428
PPARD peroxisome proliferator-activated receptor delta 0.227905
ERBB4 erb-b2 receptor tyrosine kinase 4 0.22721
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.226336
CDHR5 cadherin-related family member 5 0.224288
MPZL1 myelin protein zero-like 1 0.224106
C11ORF44 chromosome 11 open reading frame 44 0.223698
SPATA17 spermatogenesis associated 17 0.223498
N4BP1 NEDD4 binding protein 1 0.222554
OXR1 oxidation resistance 1 0.222554
LOC100506274 uncharacterized LOC100506274 0.222554
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.222483
LHFPL3 lipoma HMGIC fusion partner-like 3 0.22239
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.221862
CDH18 cadherin 18, type 2 0.221284
CCDC81 coiled-coil domain containing 81 0.221197
EXT2 exostosin glycosyltransferase 2 0.220349
GLRX3 glutaredoxin 3 0.220143
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.21974
FSTL4 follistatin-like 4 0.219541
SAMD12 sterile alpha motif domain containing 12 0.219248
PBX1 pre-B-cell leukemia homeobox 1 0.21879
DCDC2 doublecortin domain containing 2 0.218621
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 0.218509
COL25A1 collagen, type XXV, alpha 1 0.218325
APP amyloid beta (A4) precursor protein 0.218215
THSD4 thrombospondin, type I, domain containing 4 0.218215
KCNIP4 Kv channel interacting protein 4 0.218016
LIN7A lin-7 homolog A (C. elegans) 0.217766
PCDH9 protocadherin 9 0.217642
LOC100507462 uncharacterized LOC100507462 0.206985
SIPA1L1 signal-induced proliferation-associated 1 like 1 0.202622