muscular disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A musculoskeletal system disease that affects the muscles. (Human Disease Ontology, DOID_0080000)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0080000
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Genes

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

Symbol Name Standardized Value
SSFA2 sperm specific antigen 2 1.43855
LOC100506901 1.32598
IPMK inositol polyphosphate multikinase 1.30755
CSMD1 CUB and Sushi multiple domains 1 1.30444
RYR2 ryanodine receptor 2 (cardiac) 1.28906
UTRN utrophin 1.26792
MAOA monoamine oxidase A 1.24386
MACROD2 MACRO domain containing 2 1.21954
FAM133A family with sequence similarity 133, member A 1.20063
IFIT1B interferon-induced protein with tetratricopeptide repeats 1B 1.18577
STK36 serine/threonine kinase 36 1.17743
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 1.16953
HTT-AS HTT antisense RNA (head to head) 1.16393
IL12B interleukin 12B 1.16005
FBXL17 F-box and leucine-rich repeat protein 17 1.1188
DOCK9 dedicator of cytokinesis 9 1.11346
COL28A1 collagen, type XXVIII, alpha 1 1.10764
PTPN14 protein tyrosine phosphatase, non-receptor type 14 1.09402
NPAS3 neuronal PAS domain protein 3 1.06224
ESRRG estrogen-related receptor gamma 1.05799
UCK2 uridine-cytidine kinase 2 1.05742
LINGO2 leucine rich repeat and Ig domain containing 2 1.04924
SCML4 sex comb on midleg-like 4 (Drosophila) 1.03603
CTNNA3 catenin (cadherin-associated protein), alpha 3 1.02499
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.994051
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.972446
KYNU kynureninase 0.953745
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.929316
CYTH1 cytohesin 1 0.902199
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta 0.866472
MYO5B myosin VB 0.862937
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.856323
ULK4 unc-51 like kinase 4 0.847971
DMD dystrophin 0.810892
CHN1 chimerin 1 0.757135
CAMK2D calcium/calmodulin-dependent protein kinase II delta 0.693888
FGF13 fibroblast growth factor 13 0.682715
TOPAZ1 testis and ovary specific PAZ domain containing 1 0.659337
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 0.659337
EYS eyes shut homolog (Drosophila) 0.649249
OSTM1 osteopetrosis associated transmembrane protein 1 0.641015
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.638972
UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 0.635554
UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 0.634147
CAMK4 calcium/calmodulin-dependent protein kinase IV 0.631872
KIF26B kinesin family member 26B 0.629714
TBC1D2B TBC1 domain family, member 2B 0.625701
NIPBL Nipped-B homolog (Drosophila) 0.618434
FBXW11 F-box and WD repeat domain containing 11 0.605359
POU2F1 POU class 2 homeobox 1 0.596808
FBXO38 F-box protein 38 0.591882
ATRNL1 attractin-like 1 0.584916
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.561109
CETP cholesteryl ester transfer protein, plasma 0.468324
GCKR glucokinase (hexokinase 4) regulator 0.417013
AKAP13 A kinase (PRKA) anchor protein 13 0.413564
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 0.39626
BAG3 BCL2-associated athanogene 3 0.382752
SOX5 SRY (sex determining region Y)-box 5 0.362249
FADS2 fatty acid desaturase 2 0.351617
CHN2 chimerin 2 0.349248
TRHR thyrotropin-releasing hormone receptor 0.348788
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.348405
ZBTB17 zinc finger and BTB domain containing 17 0.341532
LPA lipoprotein, Lp(a) 0.341532
APOC1 apolipoprotein C-I 0.340182
TMEM258 transmembrane protein 258 0.337911
PCSK5 proprotein convertase subtilisin/kexin type 5 0.336309
SLCO1B1 solute carrier organic anion transporter family, member 1B1 0.335261
FHIT fragile histidine triad 0.331276
BUD13 BUD13 homolog (S. cerevisiae) 0.325802
RYR1 ryanodine receptor 1 (skeletal) 0.320318
COL17A1 collagen, type XVII, alpha 1 0.313341
CLMN calmin (calponin-like, transmembrane) 0.313341
GPN1 GPN-loop GTPase 1 0.308672
LPL lipoprotein lipase 0.306978
IFT172 intraflagellar transport 172 0.305641
HCG22 HLA complex group 22 0.305123
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 0.302919
ZNF512 zinc finger protein 512 0.302701
APOE apolipoprotein E 0.302276
ZPR1 ZPR1 zinc finger 0.298561
C2ORF16 chromosome 2 open reading frame 16 0.297275
RUNX1 runt-related transcription factor 1 0.289813
ASB18 ankyrin repeat and SOCS box containing 18 0.287595
LOC339975 uncharacterized LOC339975 0.287595
ADD2 adducin 2 (beta) 0.287311
APOA5 apolipoprotein A-V 0.287035
LMNTD2 lamin tail domain containing 2 0.284003
GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa 0.283156
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.279201
DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta 0.275585
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.273592
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.272197
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.270974
FGF1 fibroblast growth factor 1 (acidic) 0.269157
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.263688
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.260618
WWOX WW domain containing oxidoreductase 0.259848
CNKSR3 CNKSR family member 3 0.257774
TTC7A tetratricopeptide repeat domain 7A 0.256658
PRDM16 PR domain containing 16 0.256658
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.255982
ISPD isoprenoid synthase domain containing 0.253867
EXT1 exostosin glycosyltransferase 1 0.25213
PAIP2B poly(A) binding protein interacting protein 2B 0.251739
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.249979
ZNF204P zinc finger protein 204, pseudogene 0.248364
FADS1 fatty acid desaturase 1 0.248147
C12ORF40 chromosome 12 open reading frame 40 0.248019
RBMS3 RNA binding motif, single stranded interacting protein 3 0.247807
FBXL18 F-box and leucine-rich repeat protein 18 0.246482
ADGRB3 adhesion G protein-coupled receptor B3 0.246141
APOC1P1 apolipoprotein C-I pseudogene 1 0.245771
DYSF dysferlin 0.24541
PHF11 PHD finger protein 11 0.242809
SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3 0.240607
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.240379
PLCL1 phospholipase C-like 1 0.240105
FNDC4 fibronectin type III domain containing 4 0.240105
COBLL1 cordon-bleu WH2 repeat protein-like 1 0.240105
CNTNAP5 contactin associated protein-like 5 0.240105
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.239885
PRIM2 primase, DNA, polypeptide 2 (58kDa) 0.238699
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.236076
AKAP6 A kinase (PRKA) anchor protein 6 0.236058
GLIS1 GLIS family zinc finger 1 0.235873
TSPAN9 tetraspanin 9 0.235873
KRT82 keratin 82, type II 0.23537
SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 0.23516
TDP2 tyrosyl-DNA phosphodiesterase 2 0.234152
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.232765
ARL15 ADP-ribosylation factor-like 15 0.232619
SHISA9 shisa family member 9 0.23191
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.231236
HOTTIP HOXA distal transcript antisense RNA 0.231236
LIPC lipase, hepatic 0.231236
IQCK IQ motif containing K 0.231236
MYRF myelin regulatory factor 0.231236
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 0.230099
ARMC2 armadillo repeat containing 2 0.230099
ANTXR1 anthrax toxin receptor 1 0.229969
ATXN1 ataxin 1 0.229969
PPM1G protein phosphatase, Mg2+/Mn2+ dependent, 1G 0.228712
MLXIPL MLX interacting protein-like 0.228712
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 0.228712
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.228712
GRM3 glutamate receptor, metabotropic 3 0.228712
NCAM2 neural cell adhesion molecule 2 0.228006
MRC2 mannose receptor, C type 2 0.227552
APOL3 apolipoprotein L, 3 0.227552
NRBP1 nuclear receptor binding protein 1 0.227552
KIF16B kinesin family member 16B 0.227552
ZNF513 zinc finger protein 513 0.227552
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.227552
DCPS decapping enzyme, scavenger 0.227552
SNX17 sorting nexin 17 0.227552
NUDCD1 NudC domain containing 1 0.227441
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.227221
FBXL7 F-box and leucine-rich repeat protein 7 0.226475
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.226475
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.225567
GPRC5B G protein-coupled receptor, class C, group 5, member B 0.22547
IGF1 insulin-like growth factor 1 (somatomedin C) 0.224528
COL13A1 collagen, type XIII, alpha 1 0.223641
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.223641
KIAA0319 KIAA0319 0.223641
NRP1 neuropilin 1 0.223301
MCF2L2 MCF.2 cell line derived transforming sequence-like 2 0.222012
ZBBX zinc finger, B-box domain containing 0.222012
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.222012
KAT2B K(lysine) acetyltransferase 2B 0.220543
SH3BP4 SH3-domain binding protein 4 0.21986
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.21986
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.21986
ELOVL5 ELOVL fatty acid elongase 5 0.21986
CALCR calcitonin receptor 0.21889
OFCC1 orofacial cleft 1 candidate 1 0.218828
KRT84 keratin 84, type II 0.218766
MICA MHC class I polypeptide-related sequence A 0.218581
SETD5 SET domain containing 5 0.217981
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.217981
FEN1 flap structure-specific endonuclease 1 0.217404
LRRC49 leucine rich repeat containing 49 0.217404
LDLR low density lipoprotein receptor 0.216849
VWC2L von Willebrand factor C domain containing protein 2-like 0.216526
ASTN2 astrotactin 2 0.215798
RIMS1 regulating synaptic membrane exocytosis 1 0.215798
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.215798
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.215798
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.214817
ZNF618 zinc finger protein 618 0.214817
SCARA3 scavenger receptor class A, member 3 0.214582
SLIT2 slit homolog 2 (Drosophila) 0.214442
MTMR2 myotubularin related protein 2 0.21435
CSMD2 CUB and Sushi multiple domains 2 0.214258
TASP1 taspase, threonine aspartase, 1 0.214213
NRDE2 NRDE-2, necessary for RNA interference, domain containing 0.213898
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 0.213898
SLC38A4 solute carrier family 38, member 4 0.213459
KHDC1L KH homology domain containing 1-like 0.213459
NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 0.213459
KDM4B lysine (K)-specific demethylase 4B 0.213459
DPYD dihydropyrimidine dehydrogenase 0.213459
NXPH1 neurexophilin 1 0.213329
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.213075
CLNK cytokine-dependent hematopoietic cell linker 0.213033
DNAH9 dynein, axonemal, heavy chain 9 0.212783
OPCML opioid binding protein/cell adhesion molecule-like 0.212618
UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 0.212618
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.212216
ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 0.212216
OTOGL otogelin-like 0.211824
TEAD3 TEA domain family member 3 0.211824
SLC35F3 solute carrier family 35, member F3 0.21053
MCTP2 multiple C2 domains, transmembrane 2 0.21025
MATN2 matrilin 2 0.210009
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.210009
DGKI diacylglycerol kinase, iota 0.210009
AMPD3 adenosine monophosphate deaminase 3 0.210009
SEZ6L seizure related 6 homolog (mouse)-like 0.209705
GAB1 GRB2-associated binding protein 1 0.209672
LOC145845 uncharacterized LOC145845 0.209572
SOSTDC1 sclerostin domain containing 1 0.20902
TPTE2P6 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 0.208705
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.208705
C16ORF45 chromosome 16 open reading frame 45 0.208549
THRB thyroid hormone receptor, beta 0.208396
RHPN2 rhophilin, Rho GTPase binding protein 2 0.208396
CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit 0.208396
NELL1 NEL-like 1 (chicken) 0.208365
NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 0.208094
ADGRG5 adhesion G protein-coupled receptor G5 0.208094
KPNA5 karyopherin alpha 5 (importin alpha 6) 0.208094
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.208034
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.207857
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.207798
XDH xanthine dehydrogenase 0.207566
TBL2 transducin (beta)-like 2 0.207508
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 0.207508
THAP10 THAP domain containing 10 0.207508
F13A1 coagulation factor XIII, A1 polypeptide 0.207394
ATP10B ATPase, class V, type 10B 0.207252
FRMD4A FERM domain containing 4A 0.207224
DEXI Dexi homolog (mouse) 0.206973
MSH5 mutS homolog 5 0.206671
NRXN2 neurexin 2 0.206671
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.206671
PPARD peroxisome proliferator-activated receptor delta 0.206537
TBXAS1 thromboxane A synthase 1 (platelet) 0.206403
PACRG PARK2 co-regulated 0.206403
PRICKLE2 prickle homolog 2 (Drosophila) 0.20614
ERBB4 erb-b2 receptor tyrosine kinase 4 0.205958
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.205881
TULP1 tubby like protein 1 0.205881
APOB apolipoprotein B 0.205881
SP140 SP140 nuclear body protein 0.205627
FOXP1 forkhead box P1 0.205627
BAZ1B bromodomain adjacent to zinc finger domain, 1B 0.205627
STAU2 staufen double-stranded RNA binding protein 2 0.205627
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.205229
COL5A3 collagen, type V, alpha 3 0.20489
ZNF217 zinc finger protein 217 0.204653
CCT5 chaperonin containing TCP1, subunit 5 (epsilon) 0.204653
TMEM159 transmembrane protein 159 0.204419
USP6NL USP6 N-terminal like 0.204419
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 0.204419
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.20419
L3MBTL4 l(3)mbt-like 4 (Drosophila) 0.20419
GRAP2 GRB2-related adaptor protein 2 0.203522
CDHR5 cadherin-related family member 5 0.203522
MPZL1 myelin protein zero-like 1 0.20337
DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 0.203093
C11ORF44 chromosome 11 open reading frame 44 0.20303
SPATA17 spermatogenesis associated 17 0.202863
TM4SF4 transmembrane 4 L six family member 4 0.202473
OXR1 oxidation resistance 1 0.202075
N4BP1 NEDD4 binding protein 1 0.202075
LOC100506274 uncharacterized LOC100506274 0.202075
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.202016
LHFPL3 lipoma HMGIC fusion partner-like 3 0.201938
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.201497
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 0.201309
CDH18 cadherin 18, type 2 0.20099
CCDC81 coiled-coil domain containing 81 0.200911
TMC1 transmembrane channel-like 1 0.200519
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.200519
EXT2 exostosin glycosyltransferase 2 0.200138
FOXN3 forkhead box N3 0.200138
DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 0.200138
GADL1 glutamate decarboxylase-like 1 0.19995
SLC22A23 solute carrier family 22, member 23 0.19995
KLHDC7A kelch domain containing 7A 0.19995
TCTEX1D1 Tctex1 domain containing 1 0.19995
GLRX3 glutaredoxin 3 0.19995
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.199582
LARP6 La ribonucleoprotein domain family, member 6 0.199582
FSTL4 follistatin-like 4 0.199401
DOCK1 dedicator of cytokinesis 1 0.199223
SAMD12 sterile alpha motif domain containing 12 0.199134
PBX1 pre-B-cell leukemia homeobox 1 0.198716
SMYD3 SET and MYND domain containing 3 0.198699
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 0.198699
KDM1B lysine (K)-specific demethylase 1B 0.198699
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.198699
MIOS missing oocyte, meiosis regulator, homolog (Drosophila) 0.198699
DCDC2 doublecortin domain containing 2 0.198562
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 0.19846
COL25A1 collagen, type XXV, alpha 1 0.198292
APP amyloid beta (A4) precursor protein 0.198192
THSD4 thrombospondin, type I, domain containing 4 0.198192
KCNIP4 Kv channel interacting protein 4 0.19801
LIN7A lin-7 homolog A (C. elegans) 0.197782
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 0.197701
PCDH9 protocadherin 9 0.197669
LOC100507462 uncharacterized LOC100507462 0.187936
SIPA1L1 signal-induced proliferation-associated 1 like 1 0.183945