Disease table of MALIGNANT HYPERTHERMIA OMIM ID: PS145600

Gene-disease associations table

GeneAssociated with MALIGNANT HYPERTHERMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RYR1ClinVar, OMIM, HUMSAVARHGNC link19q13.24255310, 117000, PS145600, 255320
CACNA1SClinVar, OMIM, HUMSAVARHGNC link1q32.13170400, 188580, PS145600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
RYR1CACNA1SNo-0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
CACNA1SRYR1yes, they interactThey are in interaction. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Calcium signaling pathwayhsa040205.222CACNA1S, RYR1
Oxytocin signaling pathwayhsa049215.42CACNA1S, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
Calcium signaling pathway (hsa04020) -5.220.022CACNA1S, RYR1
GnRH signaling pathway (hsa04912) NEW6.180.017CACNA1S, RYR1
Insulin secretion (hsa04911) NEW6.180.017CACNA1S, RYR1
Cholinergic synapse (hsa04725) NEW5.880.024CACNA1S, RYR1
Alzheimer's disease (hsa05010) NEW5.340.041CACNA1S, RYR1
Oxytocin signaling pathway (hsa04921) -5.40.017CACNA1S, RYR1
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
NCAM signaling for neurite out-growth (R-HSA-375165) NEW4.90.041CACNA1S, RYR1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation channel activity (GO:0005261) 4.042CACNA1S, RYR1
calcium channel activity (GO:0005262) 5.032CACNA1S, RYR1
binding (GO:0005488) 0.182CACNA1S, RYR1
ion binding (GO:0043167) 1.362CACNA1S, RYR1
cation binding (GO:0043169) 1.42CACNA1S, RYR1
divalent inorganic cation transmembrane transporter activity (GO:0072509) 4.622CACNA1S, RYR1
voltage-gated cation channel activity (GO:0022843) 4.832CACNA1S, RYR1
passive transmembrane transporter activity (GO:0022803) 3.62CACNA1S, RYR1
metal ion transmembrane transporter activity (GO:0046873) 3.712CACNA1S, RYR1
metal ion binding (GO:0046872) 1.412CACNA1S, RYR1
calcium ion transmembrane transporter activity (GO:0015085) 4.892CACNA1S, RYR1
transporter activity (GO:0005215) 2.572CACNA1S, RYR1
ion channel activity (GO:0005216) 3.712CACNA1S, RYR1
cation transmembrane transporter activity (GO:0008324) 3.322CACNA1S, RYR1
substrate-specific transmembrane transporter activity (GO:0022891) 2.92CACNA1S, RYR1
inorganic cation transmembrane transporter activity (GO:0022890) 3.492CACNA1S, RYR1
substrate-specific transporter activity (GO:0022892) 2.722CACNA1S, RYR1
voltage-gated ion channel activity (GO:0005244) 4.492CACNA1S, RYR1
ion transmembrane transporter activity (GO:0015075) 3.042CACNA1S, RYR1
voltage-gated channel activity (GO:0022832) 4.492CACNA1S, RYR1
transmembrane transporter activity (GO:0022857) 2.822CACNA1S, RYR1
channel activity (GO:0015267) 3.62CACNA1S, RYR1
gated channel activity (GO:0022836) 3.962CACNA1S, RYR1
protein binding (GO:0005515) 0.462CACNA1S, RYR1
voltage-gated calcium channel activity (GO:0005245) 6.02CACNA1S, RYR1
substrate-specific channel activity (GO:0022838) 3.672CACNA1S, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
calcium ion transmembrane transporter activity (GO:0015085) -4.890.002CACNA1S, RYR1
voltage-gated ion channel activity (GO:0005244) -4.490.004CACNA1S, RYR1
substrate-specific channel activity (GO:0022838) -3.670.022CACNA1S, RYR1
calcium channel activity (GO:0005262) -5.030.001CACNA1S, RYR1
ion channel activity (GO:0005216) -3.710.021CACNA1S, RYR1
cation transmembrane transporter activity (GO:0008324) -3.320.05CACNA1S, RYR1
divalent inorganic cation transmembrane transporter activity (GO:0072509) -4.620.003CACNA1S, RYR1
voltage-gated channel activity (GO:0022832) -4.490.004CACNA1S, RYR1
channel activity (GO:0015267) -3.60.024CACNA1S, RYR1
gated channel activity (GO:0022836) -3.960.013CACNA1S, RYR1
passive transmembrane transporter activity (GO:0022803) -3.60.024CACNA1S, RYR1
cation channel activity (GO:0005261) -4.040.01CACNA1S, RYR1
voltage-gated calcium channel activity (GO:0005245) -6.00.001CACNA1S, RYR1
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.032CACNA1S, RYR1
metal ion transmembrane transporter activity (GO:0046873) -3.710.02CACNA1S, RYR1
voltage-gated cation channel activity (GO:0022843) -4.830.003CACNA1S, RYR1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
muscle system process (GO:0003012) 4.182CACNA1S, RYR1
multicellular organismal process (GO:0032501) 1.452CACNA1S, RYR1
regulation of biological process (GO:0050789) 0.452CACNA1S, RYR1
single-organism process (GO:0044699) 0.482CACNA1S, RYR1
regulation of localization (GO:0032879) 1.942CACNA1S, RYR1
regulation of system process (GO:0044057) 3.532CACNA1S, RYR1
localization (GO:0051179) 1.42CACNA1S, RYR1
biological regulation (GO:0065007) 0.392CACNA1S, RYR1
inorganic cation transmembrane transport (GO:0098662) 3.552CACNA1S, RYR1
inorganic ion transmembrane transport (GO:0098660) 3.382CACNA1S, RYR1
regulation of biological quality (GO:0065008) 1.682CACNA1S, RYR1
regulation of heart contraction (GO:0008016) 4.352CACNA1S, RYR1
muscle contraction (GO:0006936) 4.372CACNA1S, RYR1
cation transport (GO:0006812) 3.112CACNA1S, RYR1
ion transport (GO:0006811) 2.662CACNA1S, RYR1
transport (GO:0006810) 1.512CACNA1S, RYR1
calcium ion transport (GO:0006816) 4.332CACNA1S, RYR1
ion transmembrane transport (GO:0034220) 3.082CACNA1S, RYR1
metal ion transport (GO:0030001) 3.362CACNA1S, RYR1
regulation of multicellular organismal process (GO:0051239) 1.872CACNA1S, RYR1
divalent inorganic cation transport (GO:0072511) 4.132CACNA1S, RYR1
establishment of localization (GO:0051234) 1.482CACNA1S, RYR1
transmembrane transport (GO:0055085) 2.722CACNA1S, RYR1
system process (GO:0003008) 2.32CACNA1S, RYR1
divalent metal ion transport (GO:0070838) 4.152CACNA1S, RYR1
single-multicellular organism process (GO:0044707) 1.782CACNA1S, RYR1
calcium ion transmembrane transport (GO:0070588) 4.672CACNA1S, RYR1
regulation of blood circulation (GO:1903522) 4.052CACNA1S, RYR1
cation transmembrane transport (GO:0098655) 3.432CACNA1S, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
muscle cell development (GO:0055001) NEW5.290.002CACNA1S, RYR1
striated muscle cell development (GO:0055002) NEW5.420.035CACNA1S, RYR1
divalent inorganic cation transport (GO:0072511) -4.130.025CACNA1S, RYR1
muscle contraction (GO:0006936) -4.370.015CACNA1S, RYR1
skeletal muscle fiber development (GO:0048741) NEW6.360.002CACNA1S, RYR1
calcium ion transmembrane transport (GO:0070588) -4.670.008CACNA1S, RYR1
calcium ion transport (GO:0006816) -4.330.021CACNA1S, RYR1
muscle fiber development (GO:0048747) NEW5.80.01CACNA1S, RYR1
muscle system process (GO:0003012) -4.180.022CACNA1S, RYR1
myotube cell development (GO:0014904) NEW6.230.002CACNA1S, RYR1
divalent metal ion transport (GO:0070838) -4.150.024CACNA1S, RYR1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012CACNA1S, RYR1
protein complex (GO:0043234) 1.512CACNA1S, RYR1
macromolecular complex (GO:0032991) 1.352CACNA1S, RYR1
T-tubule (GO:0030315) 6.092CACNA1S, RYR1
integral component of membrane (GO:0016021) 1.142CACNA1S, RYR1
membrane (GO:0016020) 0.682CACNA1S, RYR1
cell part (GO:0044464) 0.112CACNA1S, RYR1
I band (GO:0031674) 6.672CACNA1S, RYR1
cytoplasmic part (GO:0044444) 0.822CACNA1S, RYR1
organelle part (GO:0044422) 0.792CACNA1S, RYR1
plasma membrane (GO:0005886) 1.392CACNA1S, RYR1
intracellular part (GO:0044424) 0.282CACNA1S, RYR1
membrane part (GO:0044425) 0.952CACNA1S, RYR1
plasma membrane part (GO:0044459) 1.952CACNA1S, RYR1
intrinsic component of membrane (GO:0031224) 1.132CACNA1S, RYR1
contractile fiber part (GO:0044449) 4.532CACNA1S, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
T-tubule (GO:0030315) -6.090.0CACNA1S, RYR1
I band (GO:0031674) -6.670.001CACNA1S, RYR1
sarcoplasmic reticulum (GO:0016529) NEW5.810.001CACNA1S, RYR1
contractile fiber part (GO:0044449) -4.530.005CACNA1S, RYR1