malignant hyperthermia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. (Human Disease Ontology, DOID_8545)
Similar Terms
Downloads & Tools

Genes

87 genes co-occuring with the disease malignant hyperthermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
RYR1 ryanodine receptor 1 (skeletal) 4.03755
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 2.48159
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 1.97644
RYR2 ryanodine receptor 2 (cardiac) 1.87607
CASQ2 calsequestrin 2 (cardiac muscle) 1.82459
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1.70406
QDPR quinoid dihydropteridine reductase 1.6642
TFDP3 transcription factor Dp family, member 3 1.64218
SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 1.6077
MB myoglobin 1.58983
CACNG1 calcium channel, voltage-dependent, gamma subunit 1 1.49394
FKBP1A FK506 binding protein 1A, 12kDa 1.30882
SEPN1 selenoprotein N, 1 1.28828
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.28173
RYR3 ryanodine receptor 3 1.27301
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.21738
CALM2 calmodulin 2 (phosphorylase kinase, delta) 1.21652
CALM1 calmodulin 1 (phosphorylase kinase, delta) 1.21002
AMPD1 adenosine monophosphate deaminase 1 1.18152
JSRP1 junctional sarcoplasmic reticulum protein 1 1.17679
DNAH8 dynein, axonemal, heavy chain 8 1.14178
MGAM maltase-glucoamylase 1.09125
SRL sarcalumenin 0.928346
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.928346
PYGM phosphorylase, glycogen, muscle 0.819206
PYGB phosphorylase, glycogen; brain 0.776159
PYGL phosphorylase, glycogen, liver 0.772479
A1BG alpha-1-B glycoprotein 0.762271
MYH4 myosin, heavy chain 4, skeletal muscle 0.745172
ORAI2 ORAI calcium release-activated calcium modulator 2 0.732596
ADGRG2 adhesion G protein-coupled receptor G2 0.711989
STIM1 stromal interaction molecule 1 0.702732
TRDN triadin 0.692697
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.685891
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.670732
OTP orthopedia homeobox 0.649718
CPT2 carnitine palmitoyltransferase 2 0.639857
ORAI3 ORAI calcium release-activated calcium modulator 3 0.608885
MMD monocyte to macrophage differentiation-associated 0.590558
CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 0.570329
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.569163
HOXB6 homeobox B6 0.536957
HLF hepatic leukemia factor 0.530768
ORAI1 ORAI calcium release-activated calcium modulator 1 0.529608
ASPH aspartate beta-hydroxylase 0.52536
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 0.511112
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 0.508808
SLN sarcolipin 0.507273
NME1 NME/NM23 nucleoside diphosphate kinase 1 0.502292
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.487788
BCL3 B-cell CLL/lymphoma 3 0.455601
GPI glucose-6-phosphate isomerase 0.449194
DMD dystrophin 0.446558
TPM3 tropomyosin 3 0.416147
CALR calreticulin 0.406425
PRKCG protein kinase C, gamma 0.403438
LBR lamin B receptor 0.403064
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.399707
TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 0.379256
MTM1 myotubularin 1 0.360026
CA2 carbonic anhydrase II 0.35082
ANXA6 annexin A6 0.340173
SLC22A6 solute carrier family 22 (organic anion transporter), member 6 0.33944
HRC histidine rich calcium binding protein 0.337975
LSR lipolysis stimulated lipoprotein receptor 0.33651
ACTA1 actin, alpha 1, skeletal muscle 0.335046
PLA2G1B phospholipase A2, group IB (pancreas) 0.334315
MLYCD malonyl-CoA decarboxylase 0.322637
BCHE butyrylcholinesterase 0.318999
SNRPA small nuclear ribonucleoprotein polypeptide A 0.318635
FKTN fukutin 0.304142
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.296211
TNNT1 troponin T type 1 (skeletal, slow) 0.270819
LDHA lactate dehydrogenase A 0.263014
TPM2 tropomyosin 2 (beta) 0.245747
SZRD1 SUZ RNA binding domain containing 1 0.237009
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.197742
PKLR pyruvate kinase, liver and RBC 0.188022
PDLIM1 PDZ and LIM domain 1 0.185313
ECI1 enoyl-CoA delta isomerase 1 0.183248
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.178126
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 0.177576
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.174354
MYOD1 myogenic differentiation 1 0.162109
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.159658
CAMP cathelicidin antimicrobial peptide 0.158605
CLCN1 chloride channel, voltage-sensitive 1 0.158266