(Q18031340)

English

RYR1

protein-coding gene in the species Homo sapiens

CCO
MHS
MHS1
PPP1R137
RYDR
RYR
RYR-1
SKRR
ryanodine receptor 1
KDS

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000196218

PBB Protein RYR1 image.jpg
434 × 381; 43 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

Ryanodine receptor 1

1 reference

6 July 2017

UniProt protein ID

genetic association

malignant hyperthermia

2 references

Klinická neurologie část speciální

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_423

based on heuristic

inferred from an Open Targets association score over 0.7

malignant hyperthermia, susceptibility to, 1

2 references

28 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcd5e6ba-ef77-434c-9ec6-47f72f597bfe-2020-11-25T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/EFO_0009071

based on heuristic

inferred from an Open Targets association score over 0.7

central core myopathy

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/EFO_1000855

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_597

based on heuristic

inferred from an Open Targets association score over 0.7

congenital multicore myopathy with external ophthalmoplegia

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0009712

based on heuristic

inferred from an Open Targets association score over 0.7

moderate multiminicore disease with hand involvement

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0015793

based on heuristic

inferred from an Open Targets association score over 0.7

multiminicore myopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0018948

based on heuristic

inferred from an Open Targets association score over 0.7

King-Denborough syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0020485

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 19

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

38924339

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

38433691

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

39078204

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

38595273

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

cytogenetic location

19q13.2

1 reference

15 May 2022

68069

1 reference

15 May 2022

Gene Atlas image

PBB GE RYR1 205485 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

68069

1 reference

HomoloGene build68

68069

gastrocnemius muscle

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

triceps brachii muscle

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

vastus lateralis muscle

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

tibialis anterior muscle

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

thoracic diaphragm

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

cingulate gyrus

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196218

http://identifiers.org/ncbigene/6261

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000196218

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

Ensembl transcript ID

ENST00000601514

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000355481

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000359596

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000593322

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000593677

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000594111

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000594335

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000596431

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000599547

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000600337

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000689936

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000692547

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

ENST00000688602

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196218

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(6 entries)

bswiki RYR1
cywiki RYR1
enwiki Ryanodine receptor 1
fawiki RYR1
itwiki RYR1
ukwiki RYR1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q18031340&oldid=1971196453"