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	malignant hyperthermia

Disease ID	251
Disease	malignant hyperthermia
Definition	Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
Synonym	anesthesia hyperthermia anesthesia hyperthermias anesthesia related hyperthermia anesthesia related hyperthermias fever malignant hyperpyrexia malignant hyperpyrexia, fulminating hyperpyrexia, malignant hyperpyrexias, malignant hyperthermia malignant hyperthermia of anaesthesia hyperthermia of anesthesia hyperthermia, anesthesia related hyperthermia, malignant hyperthermias, anesthesia related malignant fever malignant hyperpyrexia malignant hyperpyrexia -anaest malignant hyperpyrexia -anest malignant hyperpyrexia anaesth malignant hyperpyrexia anesth malignant hyperpyrexia caused by anaesthesia malignant hyperpyrexia caused by anaesthetic malignant hyperpyrexia caused by anesthesia malignant hyperpyrexia caused by anesthetic malignant hyperpyrexia caused by anesthetic (finding) malignant hyperpyrexia due to anaesthesia malignant hyperpyrexia due to anaesthetic malignant hyperpyrexia due to anesthesia malignant hyperpyrexia due to anesthesia (finding) malignant hyperpyrexia due to anesthetic malignant hyperpyrexia due to anesthetic (finding) malignant hyperpyrexias malignant hyperthemia malignant hyperthermia (finding) malignant hyperthermia [disease/finding] malignant hyperthermia caused by anaesthesia malignant hyperthermia caused by anesthesia malignant hyperthermia due to anaesthesia malignant hyperthermia due to anesthesia malignant hyperthermia syndrome malignant hyperthermia with anesthesia malignant hyperthermia, susceptibility to, 1 malignant hyperthermias mh mh - malignant hyperpyrexia mhs mhs - malignant hyperthermia mhs1 related hyperthermia, anesthesia related hyperthermias, anesthesia
Orphanet	ORPHANET:423
OMIM	OMIM:145600
DOID	DOID:8545
UMLS	C0024591
MeSH	D008305
SNOMED-CT	SNOMEDCT_US_2016_09_01:213026003;SNOMEDCT_US_2016_09_01:405501007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0026848 \| myopathies \| 2 C0026848 \| myopathy \| 1 C1631597 \| catecholaminergic polymorphic ventricular tachycardia \| 1 C0024591 \| malignant hyperthermia \| 1 C0162670 \| mitochondrial myopathies \| 1 C0270960 \| congenital myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 779 \| CACNA1S \| GHR;UNIPROT;ORPHANET 6261 \| RYR1 \| CTD_human;GHR;UNIPROT;ORPHANET 781 \| CACNA2D1 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6261 \| RYR1 \| CIPHER;CTD_human 779 \| CACNA1S \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 58 \| ACTA1 \| 1.484 \| DISEASES 55811 \| ADCY10 \| 1.337 \| DISEASES 270 \| AMPD1 \| 1.296 \| DISEASES 273 \| AMPH \| 1.748 \| DISEASES 309 \| ANXA6 \| 1.353 \| DISEASES 444 \| ASPH \| 2.551 \| DISEASES 487 \| ATP2A1 \| 3.051 \| DISEASES 488 \| ATP2A2 \| 1.973 \| DISEASES 778 \| CACNA1F \| 1.046 \| DISEASES 779 \| CACNA1S \| 6.482 \| DISEASES 781 \| CACNA2D1 \| 4.25 \| DISEASES 782 \| CACNB1 \| 3.521 \| DISEASES 801 \| CALM1 \| 3.856 \| DISEASES 811 \| CALR \| 1.457 \| DISEASES 844 \| CASQ1 \| 5.345 \| DISEASES 1376 \| CPT2 \| 2.901 \| DISEASES 1553 \| CYP2A13 \| 2.994 \| DISEASES 1555 \| CYP2B6 \| 1.053 \| DISEASES 1572 \| CYP2F1 \| 2.125 \| DISEASES 1756 \| DMD \| 1.766 \| DISEASES 1759 \| DNM1 \| 1.15 \| DISEASES 1785 \| DNM2 \| 1.056 \| DISEASES 1798 \| DPAGT1 \| 2.753 \| DISEASES 2098 \| ESD \| 1.473 \| DISEASES 2280 \| FKBP1A \| 3.941 \| DISEASES 2281 \| FKBP1B \| 1.329 \| DISEASES 642489 \| FKBP1C \| 3.856 \| DISEASES 2632 \| GBE1 \| 1.017 \| DISEASES 2821 \| GPI \| 1.973 \| DISEASES 3339 \| HSPG2 \| 2.067 \| DISEASES 3363 \| HTR7 \| 1.068 \| DISEASES 102723508 \| KANTR \| 4.517 \| DISEASES 390594 \| KBTBD13 \| 3.21 \| DISEASES 3736 \| KCNA1 \| 1.02 \| DISEASES 3939 \| LDHA \| 1.311 \| DISEASES 4151 \| MB \| 4.761 \| DISEASES 8972 \| MGAM \| 3.41 \| DISEASES 23787 \| MTCH1 \| 2.793 \| DISEASES 4534 \| MTM1 \| 1.733 \| DISEASES 378884 \| NHLRC1 \| 1.979 \| DISEASES 4831 \| NME2 \| 1.204 \| DISEASES 84876 \| ORAI1 \| 1.942 \| DISEASES 80228 \| ORAI2 \| 2.307 \| DISEASES 93129 \| ORAI3 \| 2.112 \| DISEASES 103164619 \| PCAT2 \| 1.554 \| DISEASES 5213 \| PFKM \| 1.106 \| DISEASES 11040 \| PIM2 \| 1.105 \| DISEASES 6164 \| RPL34 \| 2.216 \| DISEASES 6261 \| RYR1 \| 9.013 \| DISEASES 6262 \| RYR2 \| 5.08 \| DISEASES 6263 \| RYR3 \| 3.169 \| DISEASES 6329 \| SCN4A \| 3.498 \| DISEASES 9356 \| SLC22A6 \| 1.489 \| DISEASES 10864 \| SLC22A7 \| 1.501 \| DISEASES 9376 \| SLC22A8 \| 1.164 \| DISEASES 6547 \| SLC8A3 \| 1.773 \| DISEASES 6611 \| SMS \| 1.941 \| DISEASES 10011 \| SRA1 \| 2.561 \| DISEASES 6345 \| SRL \| 2.853 \| DISEASES 284612 \| SYPL2 \| 2.82 \| DISEASES 51270 \| TFDP3 \| 4.563 \| DISEASES 7169 \| TPM2 \| 1.327 \| DISEASES 7170 \| TPM3 \| 1.939 \| DISEASES 10345 \| TRDN \| 3.619 \| DISEASES 7222 \| TRPC3 \| 1.14 \| DISEASES 23038 \| WDTC1 \| 1.167 \| DISEASES
Locus	(Waiting for update.)

Disease ID	251
Disease	malignant hyperthermia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0003198 \| Myopathic changes \| 2 HP:0002013 \| Emesis \| 1 HP:0002047 \| Malignant hyperthermia \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0002017 \| Nausea and vomiting \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001945 \| Fever \| 1

Disease ID	251
Disease	malignant hyperthermia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C2697420 \| central core disease C2364118 \| weakness C1660219 \| analgesia C0850569 \| allergic rash C0796095 \| c syndrome C0700109 \| rigidity C0238358 \| hypokalemic periodic paralysis C0040485 \| torticollis C0027868 \| neuromyopathy C0026848 \| muscular disorders C0026837 \| muscular rigidity C0026837 \| muscle rigidity C0022660 \| acute renal failure
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:57)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111888148	19191333	6261	RYR1	umls:C0024591	BeFree	Cells expressing RYR1 variants in the N-terminal and in the central region of the protein (p.Arg530His, p.Arg2163Pro, p.Asn2342Ser, p.Glu2371Gly and p.Arg2454His) displayed higher activity compared with controls; this could account for the MH-susceptible phenotype.	0.554927954	2009	RYR1	19	38455463	G	A
rs112105381	19191329	6261	RYR1	umls:C0024591	UNIPROT	The 13 remaining MHS patients presented no known variants, neither in RYR1 nor in the CACNA1S binding regions to RYR1.	0.554927954	2009	RYR1	19	38473666	C	G
rs117886618	11241852	6261	RYR1	umls:C0024591	UNIPROT	Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.	0.554927954	2001	RYR1	19	38494464	C	G,T
rs118192122	19191333	6261	RYR1	umls:C0024591	BeFree	Cells expressing RYR1 variants in the N-terminal and in the central region of the protein (p.Arg530His, p.Arg2163Pro, p.Asn2342Ser, p.Glu2371Gly and p.Arg2454His) displayed higher activity compared with controls; this could account for the MH-susceptible phenotype.	0.554927954	2009	RYR1	19	38500643	G	A
rs118192123	12810058	6261	RYR1	umls:C0024591	BeFree	The reduction of EC(50) indicates a facilitated calcium release from sarcoplasmic reticulum in the myotubes of the index patient suggesting that the RYR1 Ile2453Thr mutation is pathogenic for the malignant hyperthermia susceptibility and CCD of the two affected individuals.	0.554927954	2003	RYR1	19	38500640	T	C
rs118192124	25086907	6261	RYR1	umls:C0024591	BeFree	These results indicate that the R2452W variant results in a hypersensitive ryanodine receptor 1 and suggest that the R2452W variant in the ryanodine receptor 1 is likely to be causative of MH.	0.554927954	2014	RYR1	19	38500636	C	T
rs118192161	9502764	6261	RYR1	umls:C0024591	BeFree	We also present evidence demonstrating that overexpression of wild-type RYR1 in cells obtained from MH-susceptible individuals does not restore the MH-negative phenotype, as far as Ca2+ transients elicited by halothane are concerned; on the other hand, overexpression of a mutated RYR1 Arg163Cys Ca2+ channel in muscle cells obtained from MH-negative individuals conveys hypersensitivity to halothane.	0.554927954	1998	RYR1	19	38444211	C	T
rs118192161	17122579	6261	RYR1	umls:C0024591	BeFree	Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.	0.554927954	2006	RYR1	19	38444211	C	T
rs118192161	20978128	6261	RYR1	umls:C0024591	BeFree	Heterozygous mice expressing the human MH/central core disease RyR1 R163C mutation exhibit MH when exposed to halothane or heat stress.	0.554927954	2011	RYR1	19	38444211	C	T
rs118192162	18394989	6261	RYR1	umls:C0024591	BeFree	Mice with a malignant hyperthermia mutation (Y522S) in the ryanodine receptor (RyR1) display muscle contractures, rhabdomyolysis, and death in response to elevated environmental temperatures.	0.554927954	2008	RYR1	19	38455359	A	C,G
rs118192163	19191333	6261	RYR1	umls:C0024591	BeFree	Cells expressing RYR1 variants in the N-terminal and in the central region of the protein (p.Arg530His, p.Arg2163Pro, p.Asn2342Ser, p.Glu2371Gly and p.Arg2454His) displayed higher activity compared with controls; this could account for the MH-susceptible phenotype.	0.554927954	2009	RYR1	19	38494565	G	A,C
rs118192172	9520251	6261	RYR1	umls:C0024591	BeFree	Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.	0.554927954	1997	RYR1	19	38457545	C	T
rs118192172	8602662	6261	RYR1	umls:C0024591	BeFree	Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family.	0.554927954	1996	RYR1	19	38457545	C	T
rs118192172	10352931	6261	RYR1	umls:C0024591	BeFree	Here we describe a rare case of discordance between genotype (characterised by the presence of the Arg614Cys mutation in the RYR1 gene) and MH-normal typed phenotype.	0.554927954	1999	RYR1	19	38457545	C	T
rs118192172	11412150	6261	RYR1	umls:C0024591	BeFree	As a consequence, Ca2+ is released from the terminal cisternae of the SR. One of the human MH-mutations of RyR1 (Arg614Cys) is also found at the homologous location in the RyR of swine (Arg615Cys).	0.554927954	2001	RYR1	19	38457545	C	T
rs118192172	11553045	6261	RYR1	umls:C0024591	BeFree	Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.	0.554927954	2001	RYR1	19	38457545	C	T
rs118192172	1510267	6261	RYR1	umls:C0024591	BeFree	A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.	0.554927954	1992	RYR1	19	38457545	C	T
rs118192172	11493496	6261	RYR1	umls:C0024591	BeFree	Genetic screening for MH-related mutations in the RYR1 gene revealed the presence of a homozygous 1840C-->T base exchange (Arg614Cys substitution) in this patient.	0.554927954	2001	RYR1	19	38457545	C	T
rs118192176	12411786	6261	RYR1	umls:C0024591	BeFree	A study of a family with the Val2168Met mutation demonstrated expression of the RYR1 mRNA mutant in B cells from the family members with MHS phenotype and a clear segregation of genotype with B-cell phenotype.	0.554927954	2002	RYR1	19	38494579	G	A
rs118192176	15299003	6261	RYR1	umls:C0024591	BeFree	The functional impact on calcium release of RYR1 mutations linked to central core disease or malignant hyperthermia is different: human myotubes carrying the malignant hyperthermia-linked RYR1 mutation V2168M had a shift in their sensitivity to the RYR agonist 4-chloro-m-cresol to lower concentrations, whereas human myotubes harboring C-terminal mutations linked to central core disease exhibited reduced [Ca2+]i increase in response to 4-chloro-m-cresol, caffeine, and KCl.	0.554927954	2004	RYR1	19	38494579	G	A
rs118192177	12220451	6261	RYR1	umls:C0024591	BeFree	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.	0.554927954	2002	RYR1	19	38496283	C	G,T
rs118192177	19919814	6261	RYR1	umls:C0024591	BeFree	Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.	0.554927954	2009	RYR1	19	38496283	C	G,T
rs121918592	8828983	6261	RYR1	umls:C0024591	BeFree	RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.	0.554927954	1996	RYR1	19	38448712	G	A,C
rs121918592	7554356	6261	RYR1	umls:C0024591	BeFree	A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.	0.554927954	1995	RYR1	19	38448712	G	A,C
rs121918592	9106529	6261	RYR1	umls:C0024591	BeFree	The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.	0.554927954	1997	RYR1	19	38448712	G	A,C
rs121918593	7881417	6261	RYR1	umls:C0024591	BeFree	The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.	0.554927954	1994	RYR1	19	38499993	G	A
rs121918593	23628358	6261	RYR1	umls:C0024591	BeFree	We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH.	0.554927954	2013	RYR1	19	38499993	G	A
rs121918595	22131268	6261	RYR1	umls:C0024591	BeFree	Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.	0.554927954	2012	RYR1	19	38580094	C	T
rs137933390	23628358	6261	RYR1	umls:C0024591	BeFree	We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH.	0.554927954	2013	RYR1	19	38475335	A	G
rs147136339	20681998	6261	RYR1	umls:C0024591	UNIPROT	Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.	0.554927954	2011	RYR1	19	38543551	A	G
rs147213895	15221887	6261	RYR1	umls:C0024591	UNIPROT	An A>G change at nucleotide 7025 was detected in the RYR1 gene in the HypoPP/MH-susceptible patient.	0.554927954	2004	RYR1	19	38499241	A	G
rs147213895	19191333	6261	RYR1	umls:C0024591	BeFree	Cells expressing RYR1 variants in the N-terminal and in the central region of the protein (p.Arg530His, p.Arg2163Pro, p.Asn2342Ser, p.Glu2371Gly and p.Arg2454His) displayed higher activity compared with controls; this could account for the MH-susceptible phenotype.	0.554927954	2009	RYR1	19	38499241	A	G
rs1800559	11260227	779	CACNA1S	umls:C0024591	BeFree	Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.	0.13261581	2001	CACNA1S	1	201060815	C	T,A
rs193922762	12883402	6261	RYR1	umls:C0024591	BeFree	A novel arginine 328 to tryptophan mutation in RYR1 was detected by direct sequencing of the RYR1 transcript from leukocytes of one MH-susceptible individual.	0.554927954	2003	RYR1	19	38448673	C	T
rs193922770	9138151	6261	RYR1	umls:C0024591	BeFree	We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree.	0.554927954	1997	RYR1	19	38455528	C	T
rs193922790	14641996	6261	RYR1	umls:C0024591	BeFree	The RyR1 Ile2182Phe mutation and the RyR1 Gly2375Ala mutation have been identified in individuals susceptible to MH.	0.554927954	2003	RYR1	19	38494621	A	T
rs193922802	11525881	6261	RYR1	umls:C0024591	BeFree	In a multigenerational North American family with a severe form of malignant hyperthermia that has caused four deaths, a novel RYR1 A2350T missense mutation was identified in all individuals testing positive for malignant hyperthermia susceptibility.	0.554927954	2001	RYR1	19	38499655	G	A
rs193922803	24361844	6261	RYR1	umls:C0024591	BeFree	We propose that R2355W is confirmed as being an MH-causative mutation and suggest that V2354M is a RYR1 mutation likely to cause MH.	0.554927954	2014	RYR1	19	38499670	C	T
rs193922807	14641996	6261	RYR1	umls:C0024591	BeFree	The RyR1 Ile2182Phe mutation and the RyR1 Gly2375Ala mutation have been identified in individuals susceptible to MH.	0.554927954	2003	RYR1	19	38499731	G	C
rs193922855	23628358	6261	RYR1	umls:C0024591	BeFree	We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH.	0.554927954	2013	RYR1	19	38565218	C	T
rs193922868	23628358	6261	RYR1	umls:C0024591	BeFree	We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys1393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with MH.	0.554927954	2013	RYR1	19	38577955	G	A
rs193922876	20461000	6261	RYR1	umls:C0024591	BeFree	The functional assays validate recombinant human skeletal muscle ryanodine receptor for analysis of variants and add an additional mutation (H4833Y) to the repertoire of mutations that can be used for the genetic diagnosis of malignant hyperthermia.	0.554927954	2010	RYR1	19	38580114	C	T
rs193922878	11928716	6261	RYR1	umls:C0024591	BeFree	The L4838V mutation is unique because it is the mutation first found within a hydrophobic transmembrane segment of the channel region and should provide further information on the function of the RyR1 as well as for genetic diagnosis of MH.	0.554927954	2002	RYR1	19	38580370	C	G
rs28933396	12059893	6261	RYR1	umls:C0024591	UNIPROT	Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.	0.554927954	2002	RYR1	19	38499997	G	A,T
rs28933397	12208234	6261	RYR1	umls:C0024591	UNIPROT	Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.	0.554927954	2002	RYR1	19	38500654	C	T
rs28933996	11575529	6261	RYR1	umls:C0024591	UNIPROT	Larger-scale studies are necessary to clarify the type and frequency of mutations in RYR1 associated with MH in North American families.	0.554927954	2001	NA	NA	NA	NA	NA
rs28933996	11412150	6261	RYR1	umls:C0024591	BeFree	As a consequence, Ca2+ is released from the terminal cisternae of the SR. One of the human MH-mutations of RyR1 (Arg614Cys) is also found at the homologous location in the RyR of swine (Arg615Cys).	0.554927954	2001	NA	NA	NA	NA	NA
rs28933997	12059893	6261	RYR1	umls:C0024591	UNIPROT	Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.	0.554927954	2002	NA	NA	NA	NA	NA
rs28933998	15448513	6261	RYR1	umls:C0024591	UNIPROT	Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.	0.554927954	2004	NA	NA	NA	NA	NA
rs28933999	12208234	6261	RYR1	umls:C0024591	UNIPROT	Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.	0.554927954	2002	NA	NA	NA	NA	NA
rs28934000	11575529	6261	RYR1	umls:C0024591	UNIPROT	Larger-scale studies are necessary to clarify the type and frequency of mutations in RYR1 associated with MH in North American families.	0.554927954	2001	NA	NA	NA	NA	NA
rs28934001	14732627	6261	RYR1	umls:C0024591	UNIPROT	This remarkably high occurrence of multiminicores in an MHS family is uncommon, and genetic analyses indicate that the association between multiminicores and MHS is linked to a novel R2656W and T2787S substitution present on the same allele of the RYR1 gene.	0.554927954	2004	NA	NA	NA	NA	NA
rs34934920	1354642	6261	RYR1	umls:C0024591	UNIPROT	Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.	0.554927954	1992	RYR1	19	38486015	C	T
rs35180584	14732627	6261	RYR1	umls:C0024591	UNIPROT	This remarkably high occurrence of multiminicores in an MHS family is uncommon, and genetic analyses indicate that the association between multiminicores and MHS is linked to a novel R2656W and T2787S substitution present on the same allele of the RYR1 gene.	0.554927954	2004	RYR1	19	38505358	C	G
rs35364374	1354642	6261	RYR1	umls:C0024591	UNIPROT	Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.	0.554927954	1992	RYR1	19	38492540	G	T
rs73933023	19191329	6261	RYR1	umls:C0024591	UNIPROT	The 13 remaining MHS patients presented no known variants, neither in RYR1 nor in the CACNA1S binding regions to RYR1.	0.554927954	2009	RYR1	19	38566975	C	T
rs80338782	20431982	146	ADRA1D	umls:C0024591	BeFree	The homozygous p.Arg1086Ser mutation of CACNA1S, the gene that encodes the alpha-1-subunit of the voltage-gated skeletal muscle L-type calcium channel, is a novel mutation associated with malignant hyperthermia.	0.001085767	2010	CACNA1S	1	201060816	G	T,C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	251
Disease	malignant hyperthermia
Case	(Waiting for update.)