abnormality of the lower limb Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the leg. (Human Phenotype Ontology, HP_0002814)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0002814
Similar Terms
Downloads & Tools

Genes

90 genes associated with the abnormality of the lower limb phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MEIS1 Meis homeobox 1 1.41919
MAP2K5 mitogen-activated protein kinase kinase 5 0.691175
BTBD9 BTB (POZ) domain containing 9 0.636767
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.373297
PTPRD protein tyrosine phosphatase, receptor type, D 0.370835
BTNL2 butyrophilin-like 2 0.355735
CDKN2B-AS1 CDKN2B antisense RNA 1 0.352252
NRCAM neuronal cell adhesion molecule 0.34132
RTP3 receptor (chemosensory) transporter protein 3 0.333097
ANK1 ankyrin 1, erythrocytic 0.323821
LRRC2 leucine rich repeat containing 2 0.323669
FSTL5 follistatin-like 5 0.322611
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 0.318077
LINGO2 leucine rich repeat and Ig domain containing 2 0.313314
UBR2 ubiquitin protein ligase E3 component n-recognin 2 0.312791
UMOD uromodulin 0.311139
TRAPPC9 trafficking protein particle complex 9 0.309519
HK2 hexokinase 2 0.306729
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 0.304122
C4ORF45 chromosome 4 open reading frame 45 0.303817
AHCTF1 AT hook containing transcription factor 1 0.302042
GRIK2 glutamate receptor, ionotropic, kainate 2 0.301956
LINC00578 long intergenic non-protein coding RNA 578 0.301228
PDE4D phosphodiesterase 4D, cAMP-specific 0.301174
LGI1 leucine-rich, glioma inactivated 1 0.298538
PARD3B par-3 family cell polarity regulator beta 0.298516
DOK6 docking protein 6 0.294013
CCDC38 coiled-coil domain containing 38 0.293276
ACSF3 acyl-CoA synthetase family member 3 0.290695
CNST consortin, connexin sorting protein 0.289025
GYPC glycophorin C (Gerbich blood group) 0.288614
LPPR1 lipid phosphate phosphatase-related protein type 1 0.287095
FAM26D family with sequence similarity 26, member D 0.284215
IDE insulin-degrading enzyme 0.282951
FA2H fatty acid 2-hydroxylase 0.282474
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.281274
RXFP2 relaxin/insulin-like family peptide receptor 2 0.28113
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.279965
PPARD peroxisome proliferator-activated receptor delta 0.279704
MSRA methionine sulfoxide reductase A 0.279639
CHL1 cell adhesion molecule L1-like 0.279384
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 0.279133
C12ORF42 chromosome 12 open reading frame 42 0.278286
ADCY8 adenylate cyclase 8 (brain) 0.275758
CDH13 cadherin 13 0.27417
LINC00540 long intergenic non-protein coding RNA 540 0.27382
RSPO2 R-spondin 2 0.273269
DAB2IP DAB2 interacting protein 0.273145
TESK2 testis-specific kinase 2 0.272819
ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 0.272779
CALCA calcitonin-related polypeptide alpha 0.272461
PACRG PARK2 co-regulated 0.272035
PTPRT protein tyrosine phosphatase, receptor type, T 0.269076
FLJ32955 0.268761
BMPER BMP binding endothelial regulator 0.268149
ABI3BP ABI family, member 3 (NESH) binding protein 0.267656
RWDD1 RWD domain containing 1 0.267559
RSPH4A radial spoke head 4 homolog A (Chlamydomonas) 0.266866
PNPLA6 patatin-like phospholipase domain containing 6 0.266561
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2 0.26641
FOXP1 forkhead box P1 0.26638
TLN2 talin 2 0.26635
DNER delta/notch-like EGF repeat containing 0.265793
RHOG ras homolog family member G 0.265422
TSPAN15 tetraspanin 15 0.26476
MEGF11 multiple EGF-like-domains 11 0.264518
CMTM8 CKLF-like MARVEL transmembrane domain containing 8 0.26402
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 0.263891
GRAMD1C GRAM domain containing 1C 0.263713
GSTM1 glutathione S-transferase mu 1 0.263412
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.263189
CREB5 cAMP responsive element binding protein 5 0.263067
RRBP1 ribosome binding protein 1 0.262424
DENND1A DENN/MADD domain containing 1A 0.262077
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.261383
KPNA5 karyopherin alpha 5 (importin alpha 6) 0.261123
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 0.261015
CDCP1 CUB domain containing protein 1 0.260866
HNF1B HNF1 homeobox B 0.260324
PDZRN4 PDZ domain containing ring finger 4 0.25988
ROR1 receptor tyrosine kinase-like orphan receptor 1 0.259467
GOLM1 golgi membrane protein 1 0.259103
SMG6 SMG6 nonsense mediated mRNA decay factor 0.258709
PRKCB protein kinase C, beta 0.258672
BNC2 basonuclin 2 0.258398
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2 0.257986
PLCE1 phospholipase C, epsilon 1 0.257863
KAT2B K(lysine) acetyltransferase 2B 0.257654
RAI14 retinoic acid induced 14 0.25696
LTF lactotransferrin 0.225344