Muscle Hypotonia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=MESH:D009123
Similar Terms
Downloads & Tools

Genes

115 genes/proteins associated with the disease Muscle Hypotonia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
ABAT 4-aminobutyrate aminotransferase 2.88009
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 2.88009
KANSL1 KAT8 regulatory NSL complex subunit 1 2.88009
MECP2 methyl CpG binding protein 2 2.88009
LETM1 leucine zipper-EF-hand containing transmembrane protein 1 2.88009
FOS FBJ murine osteosarcoma viral oncogene homolog 1.61805
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.59567
MAPK3 mitogen-activated protein kinase 3 1.55353
TAC1 tachykinin, precursor 1 1.54864
BAX BCL2-associated X protein 1.5462
MAPK1 mitogen-activated protein kinase 1 1.54499
PRL prolactin 1.53012
BDNF brain-derived neurotrophic factor 1.50675
GSK3B glycogen synthase kinase 3 beta 1.48659
TNF tumor necrosis factor 1.46754
PLAT plasminogen activator, tissue 1.46067
CAT catalase 1.45803
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.4202
JUN jun proto-oncogene 1.36791
PARP1 poly (ADP-ribose) polymerase 1 1.35473
IL6 interleukin 6 1.34955
SREBF1 sterol regulatory element binding transcription factor 1 1.31446
EGR1 early growth response 1 1.30238
FAS Fas cell surface death receptor 1.30087
BCL2 B-cell CLL/lymphoma 2 1.29875
CCNE1 cyclin E1 1.28703
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.27347
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 1.26763
GRIA1 glutamate receptor, ionotropic, AMPA 1 1.254
CREB1 cAMP responsive element binding protein 1 1.24966
SOD2 superoxide dismutase 2, mitochondrial 1.24433
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 1.23962
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.23424
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.23328
IFNG interferon, gamma 1.21695
OPRK1 opioid receptor, kappa 1 1.21076
IL10 interleukin 10 1.21043
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.20295
ICAM1 intercellular adhesion molecule 1 1.20229
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.19933
JUNB jun B proto-oncogene 1.19146
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1.19047
CXCL8 chemokine (C-X-C motif) ligand 8 1.18489
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.18489
OXT oxytocin/neurophysin I prepropeptide 1.18293
GJA1 gap junction protein, alpha 1, 43kDa 1.18193
HIGD1A HIG1 hypoxia inducible domain family, member 1A 1.18026
FOSB FBJ murine osteosarcoma viral oncogene homolog B 1.17926
IL1A interleukin 1, alpha 1.16733
IL2 interleukin 2 1.16434
DUSP1 dual specificity phosphatase 1 1.16434
CRCP CGRP receptor component 1.16401
TH tyrosine hydroxylase 1.15661
DRD4 dopamine receptor D4 1.15627
LHB luteinizing hormone beta polypeptide 1.15055
PENK proenkephalin 1.14919
THBS1 thrombospondin 1 1.1437
DUSP6 dual specificity phosphatase 6 1.13758
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 1.13724
TP53 tumor protein p53 1.13655
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 1.13449
MAP2K2 mitogen-activated protein kinase kinase 2 1.13415
DRD2 dopamine receptor D2 1.13109
RRM2 ribonucleotide reductase M2 1.1294
CDK2 cyclin-dependent kinase 2 1.12838
CCND1 cyclin D1 1.12771
DRD1 dopamine receptor D1 1.11741
TRH thyrotropin-releasing hormone 1.11186
ORC4 origin recognition complex, subunit 4 1.10665
POMC proopiomelanocortin 1.10527
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.10211
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.09998
SMC6 structural maintenance of chromosomes 6 1.09436
SELL selectin L 1.09436
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.0919
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.08975
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 1.08442
CASP7 caspase 7, apoptosis-related cysteine peptidase 1.08126
GFAP glial fibrillary acidic protein 1.07447
SEPT4 septin 4 1.07305
ALDOC aldolase C, fructose-bisphosphate 1.07234
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1.07128
CCL2 chemokine (C-C motif) ligand 2 1.06917
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.06881
NOS1 nitric oxide synthase 1 (neuronal) 1.06808
ANAPC1 anaphase promoting complex subunit 1 1.06734
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 1.05864
VCAM1 vascular cell adhesion molecule 1 1.05685
CX3CL1 chemokine (C-X3-C motif) ligand 1 1.05648
IL1B interleukin 1, beta 1.0561
CALCA calcitonin-related polypeptide alpha 1.05312
RB1 retinoblastoma 1 1.05274
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.04941
SEC62 SEC62 homolog (S. cerevisiae) 1.04794
TNFAIP6 tumor necrosis factor, alpha-induced protein 6 1.04757
GSTM1 glutathione S-transferase mu 1 1.04647
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.04276
GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 1.04014
HIBCH 3-hydroxyisobutyryl-CoA hydrolase 1.03827
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 1.03567
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 1.0353
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.03382
ADORA2A adenosine A2a receptor 1.03345
INA internexin neuronal intermediate filament protein, alpha 1.02971
GOLGA8B golgin A8 family, member B 1.02746
FGF2 fibroblast growth factor 2 (basic) 1.02634
EGR4 early growth response 4 1.02596
NUPL1 nucleoporin like 1 1.02559
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 1.02262
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.0204
SSR1 signal sequence receptor, alpha 1.01776
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 1.01739
F2R coagulation factor II (thrombin) receptor 1.01249
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.01099
TAGLN transgelin 1.01099