Malignant Hyperthermia Susceptibility disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Malignant Hyperthermia Susceptibility

Sources:
²⁰GeneReviews, ³²MalaCards
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MalaCards based summary: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia and central core myopathy. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are NCAM signaling for neurite out-growth and Celecoxib Pathway, Pharmacodynamics. The drugs dantrolene and dantrolene sodium and the compounds succinylcholine and dihydropyridine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related mouse phenotypes are other and growth/size/body.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

Sources:
²⁰GeneReviews, ²¹GeneTests, ²³GTR, ⁶¹UMLS
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Malignant Hyperthermia Susceptibility, Aliases & Descriptions:

Name: Malignant Hyperthermia Susceptibility ²⁰ ²¹ ²³

Malignant Hyperpyrexia Due to Anesthesia ⁶¹

Malignant Hyperpyrexia ²⁰

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases

Related Diseases for Malignant Hyperthermia Susceptibility

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Malignant Hyperthermia Susceptibility Type 1 family:

malignant hyperthermia susceptibility	Malignant Hyperthermia Susceptibility Type 2
Malignant Hyperthermia Susceptibility Type 3	Malignant Hyperthermia Susceptibility Type 4
Malignant Hyperthermia Susceptibility Type 5	Malignant Hyperthermia Susceptibility Type 6
Ryr1-Related Malignant Hyperthermia Susceptibility	Mhs2-Related Malignant Hyperthermia Susceptibility
Mhs3-Related Malignant Hyperthermia Susceptibility	Mhs4-Related Malignant Hyperthermia Susceptibility
Cacna1s-Related Malignant Hyperthermia Susceptibility	Mhs6-Related Malignant Hyperthermia Susceptibility

Diseases related to Malignant Hyperthermia Susceptibility via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)

id	Related Disease	Score	Top Affiliating Genes
1	malignant hyperthermia	31.5	RYR1, CACNA1S, CASQ1, CACNG1, SCN4A
2	central core myopathy	30.6	CACNA1S, RYR1
3	myopathy	30.6	RYR1, CACNA1S, CASQ1, SCN4A
4	malignant hyperthermia susceptibility type 1	10.5
5	malignant hyperthermia susceptibility type 2	10.5
6	malignant hyperthermia susceptibility type 3	10.5
7	malignant hyperthermia susceptibility type 4	10.5
8	malignant hyperthermia susceptibility type 5	10.5
9	malignant hyperthermia susceptibility type 6	10.5
10	neuroleptic malignant syndrome	10.3
11	ryr1-related malignant hyperthermia susceptibility	10.3
12	mhs2-related malignant hyperthermia susceptibility	10.3
13	mhs3-related malignant hyperthermia susceptibility	10.3
14	mhs4-related malignant hyperthermia susceptibility	10.3
15	cacna1s-related malignant hyperthermia susceptibility	10.3
16	mhs6-related malignant hyperthermia susceptibility	10.3
17	king denborough syndrome	10.3
18	motor neuron disease	10.2
19	obstructive sleep apnea	10.2
20	osteogenesis imperfecta	10.2
21	neuronitis	10.2
22	muscular dystrophy	10.2
23	placenta praevia	10.2
24	sleep apnea	10.2
25	mitochondrial disorders	10.2
26	rippling muscle disease	10.2
27	blindness	10.2
28	neuromuscular disease	10.1	RYR1, SCN4A
29	hypokalemia	10.0	CACNA1S, SCN4A
30	hypokalemic periodic paralysis	10.0	SCN4A, CACNA1S, RYR1
31	oxyphilic adenoma	9.8	CAV1, NME1

Graphical network of the top 20 diseases related to Malignant Hyperthermia Susceptibility:

Symptoms for Malignant Hyperthermia Susceptibility

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Malignant Hyperthermia Susceptibility

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS⁶¹/NDF-RT⁴⁰:

dantrolene

dantrolene sodium

Genetic Tests for Malignant Hyperthermia Susceptibility

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Malignant Hyperthermia Susceptibility:

id	Genetic test	Affiliating Genes
1	Malignant Hyperthermia Susceptibility²¹ ²³	RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

³²

Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	other phenotype	MP:0005395	9.2	CAV1, NME1, RYR1
2	growth/size/body phenotype	MP:0005378	8.1	RYR1, NME1, CAV1, CACNA1S, CASQ1, SCN4A
3	muscle phenotype	MP:0005369	7.2	RYR1, CAV1, CACNB1, CACNA1S, CASQ1, CACNG1

Publications for Malignant Hyperthermia Susceptibility

Sources:
⁵¹PubMed
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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 202)

id	Title	Authors	Year
1	Manufacturer's response to Bilmen and Gillies' manuscript entitled "Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients". (25342416)	Orr J.... Sakata D.	2014
2	Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. (25086907)	Roesl C.... Stowell K.M.	2014
3	A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)	Sundblom J.... Islander G.	2013
4	A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. (24455316)	Schuster F.... Anetseder M.	2013
5	Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. (23957432)	Johannsen S.... Schuster F.	2013
6	A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. (22030266)	Taylor A.... Lotery A.J.	2012
7	Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. (22431093)	Rouviere C.... Ingalls C.P.	2012
8	Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. (22139840)	Barrientos G.C.... Pessah I.N.	2012
9	New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)	Feldman J.M.	2011
10	Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. (21156754)	Feng W.... Pessah I.N.	2011
11	Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)	Metterlein T.... Anetseder M.	2010
12	Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. (20566647)	Duke A.M.... Steele D.S.	2010
13	Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)	Whitty R.J.... Crawford M.W.	2009
14	Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. (19762757)	Chen P.L.... Day Y.J.	2009
15	Molecular genetic testing to diagnose malignant hyperthermia susceptibility. (18502356)	Girard T.... Litman R.S.	2008
16	Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. (18306019)	Tanabe T.... Nishino I.	2008
17	Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)	Sinclair C.... Eipe N.	2007
18	The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs. (16428544)	Schuster F.... Anetseder M.	2006
19	Orthotopic liver transplantation in a malignant hyperthermia susceptible patient. (16297758)	Schmidt A.... Kentner R.	2005
20	4-chloro-m-cresol cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. (15281512)	Weigl L.G.... Kress H.G.	2004
21	Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)	Mathews K.D.... Moore S.A.	2004
22	Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. (15299003)	Ducreux S.... Treves S.	2004
23	Diagnosis of malignant hyperthermia susceptibility during CABG surgery. (12631056)	Girard T.... SchA1rch M.	2003
24	Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (12700608)	Robinson R.L.... Mueller C.R.	2003
25	Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)	Fricker R.M.... Bittner R.E.	2002
26	Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. (12220451)	Wehner M.... Olthoff D.	2002
27	Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)	Monnier N.... Lunardi J.	2002
28	Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum. (11377377)	O'Sullivan G.H.... Heffron J.J.	2001
29	Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)	Ording H.... Ranklev-Twetman E.	2000
30	Shortening velocity of skeletal muscle from humans with malignant hyperthermia susceptibility: effects of halothane. (10657553)	Etchrivi T.S.... Adnet P.J.	2000
31	Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. (9502764)	Censier K.... Treves S.	1998
32	Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. (9199552)	Monnier N.... Lunardi J.	1997
33	Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)	Buckmaster H.A.... Kudynska J.	1993
34	Malignant Hyperthermia Susceptibility (20301325)	Pagon R.A.... Stephens K.	1993
35	Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. (8395939)	Sudbrak R.... Deufel T.	1993
36	Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)	Halsall P.J.... Ellis F.R.	1992
37	Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. (1427885)	Levitt R.C.... Meyers D.A.	1992
38	Unexplained increases in serum creatine kinase levels: its relation to malignant hyperthermia susceptibility. (2018229)	Lingaraju N.... Rosenberg H.	1991
39	Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-q13.2. (2379741)	Healy J.M.... McCarthy T.V.	1990
40	Microassay for malignant hyperthermia susceptibility: hypersensitive ligand-gating of the Ca channel in muscle sarcoplasmic reticulum causes increased amounts and rates of Ca-release. (2158620)	O'Brien P.J.	1990
41	Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2321777)	Allen G.C.... Fletcher J.E.	1990
42	Canine stress syndrome/malignant hyperthermia susceptibility: calcium-homeostasis defect in muscle and lymphocytes. (2300706)	O'Brien P.J.... Elliott M.E.	1990
43	Neuroleptic malignant syndrome and malignant hyperthermia susceptibility. (2244451)	Tweed W.A.	1990
44	Identify malignant hyperthermia susceptibility to avert life-threatening episodes. (2605774)	Mitsumoto H.	1989
45	Porcine malignant hyperthermia susceptibility: halothane-induced increase in cytoplasmic free calcium in lymphocytes. (2919818)	O'Brien P.J.... Jacobs R.M.	1989
46	Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)	O'Brien P.J.	1986
47	Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? (4096721)	Fishbein W.N.... Armbrustmacher V.W.	1985
48	Canine malignant hyperthermia susceptibility: erythrocytic defects--osmotic fragility, glucose-6-phosphate dehydrogenase deficiency and abnormal Ca2+ homeostasis. (6150753)	O'Brien P.J.... Addis P.B.	1984
49	Electrocardiographic abnormalities associated with malignant hyperthermia susceptibility. (7069330)	Huckell V.F.... Morch J.E.	1982
50	Screening for malignant hyperthermia susceptibility. (6930029)	Anderson I.L.... Dunlop D.J.	1980

Genes related to Malignant Hyperthermia Susceptibility

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ²¹GeneTests
See all sources

Genes related to Malignant Hyperthermia Susceptibility:

(show all 12)

- Elite gene

id	Symbol	Description	Score	Implication
1	RYR1	ryanodine receptor 1 (skeletal)	21.06	Genetic Tests ²¹ GeneCards inferred via : Publications, Disorders, Summaries (show sections)
2	CACNA1S	calcium channel, voltage-dependent, L type, alpha 1S subunit	19.40	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
3	SCN4A	sodium channel, voltage-gated, type IV, alpha subunit	17.52	GeneCards inferred via : Publications (show sections)
4	NME1	NME/NM23 nucleoside diphosphate kinase 1	15.85	GeneCards inferred via : Publications (show sections)
5	CAV1	caveolin 1, caveolae protein, 22kDa	14.18	GeneCards inferred via : Publications (show sections)
6	MHS4	malignant hyperthermia susceptibility 4	12.69	GeneCards inferred via : Publications, Gene name (show sections)
7	MHS2	malignant hyperthermia susceptibility 2	11.02	GeneCards inferred via : Publications, Gene name (show sections)
8	MHS6	malignant hyperthermia susceptibility 6	9.36	GeneCards inferred via : Gene name (show sections)
9	MHS3	Malignant hyperthermia susceptibility 3	7.69	GeneCards inferred via : Gene name (show sections)
10	CACNG1	calcium channel, voltage-dependent, gamma subunit 1	5.85	GeneCards inferred via : Publications (show sections)
11	CASQ1	calsequestrin 1 (fast-twitch, skeletal muscle)	4.18	GeneCards inferred via : Publications (show sections)
12	CACNB1	calcium channel, voltage-dependent, beta 1 subunit	2.52	GeneCards inferred via : Publications (show sections)

Products for genes related to Malignant Hyperthermia Susceptibility disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	5	-	8	8
2	Novus Biologicals	5	5	8	-

Variations for Malignant Hyperthermia Susceptibility

Expression for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia Susceptibility

Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
⁴⁹PathCards, ⁵⁴Reactome, ⁵⁰PharmGKB, ³⁰KEGG, ⁵²QIAGEN, ³⁷NCBI BioSystems Database, ⁵⁹Thomson Reuters
See all sources

Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 24)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	NCAM signaling for neurite out-growth⁵⁴ Show member pathways NCAM1 interactions⁵⁴	9.7	CACNB1, CACNA1S
2	Celecoxib Pathway, Pharmacodynamics⁵⁰	9.7	CACNB1, CACNA1S
3	L1CAM interactions⁵⁴ Show member pathways Developmental Biology⁵⁴ CHL1 interactions⁵⁴ Neurofascin interactions⁵⁴ Axon guidance⁵⁴ NrCAM interactions⁵⁴	9.4	CACNB1, CACNA1S, SCN4A
4	Cardiac muscle contraction³⁰	9.0	CACNB1, CACNA1S, CACNG1
5	Dopamine-DARPP32 Feedback onto cAMP Pathway⁵²	9.0	CACNB1, CACNA1S, CACNG1
6	NFAT and Cardiac Hypertrophy⁵² Show member pathways Signaling Involved in Cardiac Hypertrophy⁵² IGF1R Signaling⁵²	9.0	CACNB1, CACNA1S, CACNG1
7	Fc-GammaR Pathway⁵² Show member pathways Fc-Gamma-RIIB Signaling in B-Cells⁵²	9.0	CACNB1, CACNA1S, CACNG1
8	Chemokine Signaling⁵² Show member pathways Chemokine signaling pathway³⁰	9.0	CACNB1, CACNA1S, CACNG1
9	Hypertrophic cardiomyopathy (HCM)³⁰ Show member pathways Arrhythmogenic right ventricular cardiomyopathy (ARVC)³⁰ Arrhythmogenic right ventricular cardiomyopathy³⁷ Dilated cardiomyopathy³⁰	9.0	CACNB1, CACNA1S, CACNG1
10	MAPK signaling pathway³⁰ Show member pathways MAPK signaling pathway³⁷	9.0	CACNG1, CACNA1S, CACNB1
11	Sweet Taste Signaling⁵² Show member pathways Bitter Taste Signaling⁵² Melatonin Signaling⁵² Sperm Motility⁵² Cellular Effects of Sildenafil⁵²	9.0	CACNG1, CACNA1S, CACNB1
12	Adrenergic signaling in cardiomyocytes³⁰	9.0	CACNG1, CACNA1S, CACNB1
13	TCR signaling⁵⁴ Show member pathways ITK and TCR Signaling⁵² PKC-Theta Pathway⁵² TCR Signaling⁵² PDGF Pathway⁵² Fc-EpsilonRI Pathway⁵²	9.0	CACNG1, CACNA1S, CACNB1
14	Androgen Signaling⁵² Show member pathways CCR5 Pathway in Macrophages⁵²	9.0	CACNG1, CACNA1S, CACNB1
15	DREAM Repression and Dynorphin Expression⁵² Show member pathways Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels⁵⁴ Calpain Protease Regulates Cellular Mechanics⁵² BMP Pathway⁵² TOB in Osteoblast Signaling⁵² Caspase Cascade⁵² nNOS Signaling in Skeletal Muscle⁵²	8.8	CACNG1, CACNA1S, CACNB1, RYR1
16	Presenilin-Mediated Signaling⁵²	8.8	RYR1, CACNB1, CACNA1S, CACNG1
17	CREB Pathway⁵² Show member pathways Intracellular Calcium Signaling⁵² Activation of PKC through GPCR⁵² IP3 Pathway⁵²	8.8	RYR1, CACNB1, CACNA1S, CACNG1
18	Netrin Signaling⁵²	8.8	RYR1, CACNB1, CACNA1S, CACNG1
19	Oxytocin signaling pathway³⁰ Show member pathways Vascular smooth muscle contraction³⁰	8.8	RYR1, CACNB1, CACNA1S, CACNG1
20	Integrin Pathway⁵² Show member pathways Inhibition of Angiogenesis by TSP1⁵² Transendothelial Migration of Leukocytes⁵² FAK1 Signaling⁵² GnRH Signaling⁵² UPA-UPAR Pathway⁵²	8.7	CAV1, CACNB1, CACNA1S, CACNG1
21	Transcription CREB pathway⁵⁹ Show member pathways Development Ligand independent activation of ESR1 and ESR2⁵⁹	8.7	CACNG1, CACNA1S, CACNB1, CAV1
22	Myometrial Relaxation and Contraction Pathways³⁷ Show member pathways Calcium Regulation in the Cardiac Cell³⁷	8.6	CASQ1, CACNA1S, CACNB1, RYR1
23	Activation of cAMP-Dependent PKA⁵² Show member pathways PKA Signaling⁵² Activation of PKA through GPCR⁵² cAMP Pathway⁵²	8.5	SCN4A, CACNG1, CACNA1S, CACNB1, RYR1
24	G-Beta Gamma Signaling⁵² Show member pathways CRHR Pathway⁵² Relaxin Pathway⁵² GHRH Signaling⁵² Hedgehog Signaling in Mammals⁵²	8.4	SCN4A, CACNG1, CACNA1S, CACNB1, CAV1

Compounds for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
⁴⁴Novoseek, ⁵⁰PharmGKB, ²⁹IUPHAR, ¹²DrugBank, ⁶⁰Tocris Bioscience, ²⁵HMDB
See all sources

Compounds related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	succinylcholine⁴⁴ ⁵⁰ ²⁹ ¹²	12.9	RYR1, CACNA1S, SCN4A
2	dihydropyridine⁴⁴	9.8	RYR1, CACNA1S, SCN4A
3	nitrendipine⁴⁴ ⁵⁰ ²⁹ ¹²	12.7	CACNA1S, CACNG1
4	chloride⁴⁴	9.7	SCN4A, CAV1, RYR1
5	diltiazem⁴⁴ ²⁹ ⁵⁰ ¹²	12.6	CACNA1S, CACNG1
6	ouabain⁴⁴ ¹²	10.6	CAV1, RYR1
7	histidine⁴⁴	9.5	NME1, CACNA1S, SCN4A
8	ryanodine⁴⁴ ²⁹ ⁶⁰	11.3	CASQ1, CACNA1S, RYR1
9	arginine⁴⁴	9.3	SCN4A, CACNA1S, CAV1, RYR1
10	amlodipine⁴⁴ ⁵⁰ ²⁵ ¹²	12.2	CACNB1, CACNA1S, CACNG1
11	atp⁴⁴ ²⁹	10.2	RYR1, NME1, CAV1, SCN4A
12	verapamil⁴⁴ ²⁹ ⁵⁰ ²⁵ ¹²	12.9	CACNG1, CACNA1S, CACNB1, CAV1
13	calcium⁴⁴ ⁵⁰ ²⁵ ¹²	10.2	SCN4A, CACNG1, CASQ1, CACNA1S, CACNB1, CAV1

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sarcoplasmic reticulum membrane	GO:033017	9.4	RYR1, CASQ1
2	sarcoplasmic reticulum	GO:016529	9.3	RYR1, CACNB1, CACNA1S
3	I band	GO:031674	9.2	RYR1, CACNA1S, CASQ1
4	smooth endoplasmic reticulum	GO:005790	9.1	RYR1, CASQ1
5	voltage-gated calcium channel complex	GO:005891	9.0	CACNG1, CACNA1S, CACNB1
6	T-tubule	GO:030315	8.7	RYR1, CACNB1, CACNA1S, CASQ1

Biological processes related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	skeletal muscle fiber development	GO:048741	10.0	CACNA1S, RYR1
2	cytosolic calcium ion homeostasis	GO:051480	9.8	RYR1, CAV1
3	calcium ion transport	GO:006816	9.7	RYR1, CAV1, CACNA1S
4	lactation	GO:007595	9.5	NME1, CAV1
5	endoplasmic reticulum organization	GO:007029	9.4	CACNA1S, CASQ1
6	skeletal muscle tissue development	GO:007519	9.3	CAV1, CASQ1
7	muscle contraction	GO:006936	9.2	RYR1, CACNA1S, CACNG1, SCN4A

Molecular functions related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	high voltage-gated calcium channel activity	GO:008331	9.7	CACNB1, CACNA1S
2	voltage-gated calcium channel activity	GO:005245	8.5	RYR1, CACNB1, CACNA1S, CACNG1