DisGeNET - a database of gene-disease associations

Malignant hyperpyrexia due to anesthesia, C0024591

Gene: RYR1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118192177

RYR1

0.720

GeneticVariation

BEFREE

In this study we could demonstrate that the MH causative Thr2206Met mutation may also be associated both with clinical symptoms of a mild myopathy and histopathological changes in the oxidative inter myofibrillar network.

19919814

2010

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

9497245

1998

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.

11575529

2001

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.

19919814

2010

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

25558065

2015

dbSNP:

rs118192177

RYR1

0.720

GeneticVariation

BEFREE

From the reduction of EC(50) we conclude that the RyR1 Thr2206Met mutation is pathogenic for MH.

12220451

2002

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

10484775

1999

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

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

2002

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Genetic variation in RYR1 and malignant hyperthermia phenotypes.

19648156

2009

dbSNP:

rs118192177

RYR1

0.720

CausalMutation

CLINVAR

Genotype-phenotype correlations in recessive RYR1-related myopathies.

23919265

2013

dbSNP:

rs1057518885

RYR1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

16163667

2005

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

25637381

2015

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

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.

12208234

2002

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

25957634

2015

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

23558838

2013

dbSNP:

rs146876145

RYR1

0.700

GeneticVariation

CLINVAR

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

12411788

2002

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations in recessive RYR1-related myopathies.

23919265

2013

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.

23459219

2013

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.

14999498

2004

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

24433488

2014

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

12066726

2002

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

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.

12208234

2002

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

[Current aspects of the diagnosis of malignant hyperthermia].

12434264

2002

dbSNP:

rs193922764

RYR1

0.700

GeneticVariation

CLINVAR

Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.

25735680

2015