muscular hypotonia Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. (Human Phenotype Ontology, HP_0001252)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001252
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Genes

91 genes associated with the muscular hypotonia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
TCF19 transcription factor 19 2.94464
MSH5 mutS homolog 5 2.8946
C2 complement component 2 2.88356
CFB complement factor B 2.87124
STK19 serine/threonine kinase 19 2.86733
C6ORF10 chromosome 6 open reading frame 10 2.83976
DPCR1 diffuse panbronchiolitis critical region 1 2.79682
BTNL2 butyrophilin-like 2 2.79023
VARS2 valyl-tRNA synthetase 2, mitochondrial 2.77477
C6ORF15 chromosome 6 open reading frame 15 2.77172
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 2.76626
GPANK1 G patch domain and ankyrin repeats 1 2.762
PRRC2A proline-rich coiled-coil 2A 2.75997
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 2.72962
HCG18 HLA complex group 18 (non-protein coding) 2.67609
NOTCH4 notch 4 2.66458
MUC22 mucin 22 2.66295
TRIM31 tripartite motif containing 31 2.66227
MUC21 mucin 21, cell surface associated 2.65442
RNF39 ring finger protein 39 2.64117
POU5F1 POU class 5 homeobox 1 2.62706
ZNRD1 zinc ribbon domain containing 1 2.62094
PSORS1C1 psoriasis susceptibility 1 candidate 1 2.61696
HCG9 HLA complex group 9 (non-protein coding) 2.60314
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 2.58151
MICB MHC class I polypeptide-related sequence B 2.57809
GPSM3 G-protein signaling modulator 3 2.55256
TNIP1 TNFAIP3 interacting protein 1 1.40061
LOC100506023 uncharacterized LOC100506023 0.87241
IKZF3 IKAROS family zinc finger 3 (Aiolos) 0.802966
TRAF3 TNF receptor-associated factor 3 0.762459
DTNBP1 dystrobrevin binding protein 1 0.747666
SGCZ sarcoglycan, zeta 0.722116
GSDMB gasdermin B 0.697013
TNPO3 transportin 3 0.690584
RORA RAR-related orphan receptor A 0.669923
FAM159A family with sequence similarity 159, member A 0.669923
ZPBP2 zona pellucida binding protein 2 0.637546
SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 0.591289
NTF3 neurotrophin 3 0.585507
KALRN kalirin, RhoGEF kinase 0.577224
LRRK2 leucine-rich repeat kinase 2 0.562717
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 0.562717
MEGF11 multiple EGF-like-domains 11 0.549174
ZNF667 zinc finger protein 667 0.543523
RASSF2 Ras association (RalGDS/AF-6) domain family member 2 0.535185
PLCL1 phospholipase C-like 1 0.535185
CORO1C coronin, actin binding protein, 1C 0.535185
NUF2 NUF2, NDC80 kinetochore complex component 0.531556
MTSS1 metastasis suppressor 1 0.528162
NKAIN3 Na+/K+ transporting ATPase interacting 3 0.528162
MAMLD1 mastermind-like domain containing 1 0.525058
IVD isovaleryl-CoA dehydrogenase 0.525058
ROR1 receptor tyrosine kinase-like orphan receptor 1 0.522136
ANK1 ankyrin 1, erythrocytic 0.522136
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 0.511765
RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 0.511765
RSBN1 round spermatid basic protein 1 0.507122
BARX2 BARX homeobox 2 0.50495
ADCY5 adenylate cyclase 5 0.502867
STARD3 StAR-related lipid transfer (START) domain containing 3 0.50086
CSN1S2BP casein alpha s2-like B, pseudogene 0.50086
SLIT3 slit homolog 3 (Drosophila) 0.498792
EDA ectodysplasin A 0.496801
SLC39A11 solute carrier family 39, member 11 0.496801
SH3GLB2 SH3-domain GRB2-like endophilin B2 0.494882
CNTN5 contactin 5 0.489511
CAMKMT calmodulin-lysine N-methyltransferase 0.489511
IDO2 indoleamine 2,3-dioxygenase 2 0.487836
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 0.487836
NPAS3 neuronal PAS domain protein 3 0.486163
GNA14 guanine nucleotide binding protein (G protein), alpha 14 0.484434
PHTF1 putative homeodomain transcription factor 1 0.484434
TOX thymocyte selection-associated high mobility group box 0.482756
KIAA1549 KIAA1549 0.481126
STAT4 signal transducer and activator of transcription 4 0.478004
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.478004
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 0.476506
TBX5 T-box 5 0.475047
NKX2-3 NK2 homeobox 3 0.475047
PDE4D phosphodiesterase 4D, cAMP-specific 0.473626
ANKRD55 ankyrin repeat domain 55 0.473626
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 0.472241
SCAMP5 secretory carrier membrane protein 5 0.472241
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.470822
INADL InaD-like (Drosophila) 0.469373
BCL2L15 BCL2-like 15 0.469373
VAC14 Vac14 homolog (S. cerevisiae) 0.469373
FGD5 FYVE, RhoGEF and PH domain containing 5 0.467959
CD226 CD226 molecule 0.467959
TCAP titin-cap 0.467959