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- NCIT_C150312 IAO_0000115 "Human RYR1 wild-type allele is located in the vicinity of 19q13.2 and is approximately 154 kb in length. This allele, which encodes ryanodine receptor 1 protein, plays a role in skeletal muscle contraction and neuronal signaling. Mutation of the gene is associated with central core disease, King-Denborough syndrome, minicore myopathy with external ophthalmoplegia, congenital neuromuscular disease with uniform type 1 fiber and susceptibility to malignant hyperthermia type 1." @default.
- NCIT_C150312 NCIT_NHC0 "C150312" @default.
- NCIT_C150312 NCIT_P100 "180901" @default.
- NCIT_C150312 NCIT_P102 "J05200" @default.
- NCIT_C150312 NCIT_P106 "Gene or Genome" @default.
- NCIT_C150312 NCIT_P107 "RYR1 wt Allele" @default.
- NCIT_C150312 NCIT_P108 "RYR1 wt Allele" @default.
- NCIT_C150312 NCIT_P208 "CL552114" @default.
- NCIT_C150312 NCIT_P321 "6261" @default.
- NCIT_C150312 NCIT_P322 "CTRP" @default.
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- NCIT_C150312 NCIT_R37 NCIT_C19950 @default.
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- NCIT_C150312 NCIT_R37 NCIT_C19988 @default.
- NCIT_C150312 NCIT_R37 NCIT_C20139 @default.
- NCIT_C150312 NCIT_R37 NCIT_C20480 @default.
- NCIT_C150312 NCIT_R37 NCIT_C21079 @default.
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- NCIT_C150312 NCIT_R37 NCIT_C28498 @default.
- NCIT_C150312 NCIT_R37 NCIT_C30085 @default.
- NCIT_C150312 NCIT_R37 NCIT_C30095 @default.
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- NCIT_C150312 NCIT_R37 NCIT_C41480 @default.
- NCIT_C150312 NCIT_R40 NCIT_C12219 @default.
- NCIT_C150312 NCIT_R40 NCIT_C13282 @default.
- NCIT_C150312 NCIT_R40 NCIT_C13377 @default.
- NCIT_C150312 NCIT_R40 NCIT_C13432 @default.
- NCIT_C150312 NCIT_R40 NCIT_C13446 @default.
- NCIT_C150312 NCIT_R40 NCIT_C13655 @default.
- NCIT_C150312 NCIT_R40 NCIT_C14135 @default.
- NCIT_C150312 NCIT_R40 NCIT_C32221 @default.
- NCIT_C150312 NCIT_R40 NCIT_C34070 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14182 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14225 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14234 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14250 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14262 @default.
- NCIT_C150312 NCIT_R41 NCIT_C14282 @default.
- NCIT_C150312 NCIT_R41 NCIT_C25796 @default.
- NCIT_C150312 NCIT_R41 NCIT_C79740 @default.
- NCIT_C150312 normalizedInformationContent "100" @default.
- NCIT_C150312 referenceCount "1" @default.
- NCIT_C150312 hasExactSynonym "CCO" @default.
- NCIT_C150312 hasExactSynonym "Central Core Disease of Muscle Gene" @default.
- NCIT_C150312 hasExactSynonym "MHS" @default.
- NCIT_C150312 hasExactSynonym "MHS1" @default.
- NCIT_C150312 hasExactSynonym "PPP1R137" @default.
- NCIT_C150312 hasExactSynonym "Protein Phosphatase 1, Regulatory Subunit 137 Gene" @default.
- NCIT_C150312 hasExactSynonym "RYDR" @default.
- NCIT_C150312 hasExactSynonym "RYR" @default.
- NCIT_C150312 hasExactSynonym "RYR-1" @default.
- NCIT_C150312 hasExactSynonym "RYR1 wt Allele" @default.
- NCIT_C150312 hasExactSynonym "Ryanodine Receptor 1 (Skeletal) Gene" @default.
- NCIT_C150312 hasExactSynonym "SKRR" @default.
- NCIT_C150312 inSubset NCIT_C116977 @default.
- NCIT_C150312 inSubset NCIT_C142799 @default.
- NCIT_C150312 inSubset NCIT_C142800 @default.
- NCIT_C150312 type Class @default.
- NCIT_C150312 isDefinedBy ncit.owl @default.
- NCIT_C150312 label "RYR1 wt Allele" @default.
- NCIT_C150312 subClassOf NCIT_C150311 @default.
- NCIT_C150312 subClassOf NCIT_C150312 @default.
- NCIT_C150312 subClassOf NCIT_C16612 @default.
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- NCIT_C150312 subClassOf NCIT_C25869 @default.
- NCIT_C150312 subClassOf NCIT_C25993 @default.
- NCIT_C150312 subClassOf NCIT_C26039 @default.
- NCIT_C150312 subClassOf NCIT_C28533 @default.
- NCIT_C150312 equivalentClass B5a204ac80263d41d53dff907623e76d6 @default.
- NCIT_C150312 equivalentClass B939e63fb712a01e1f1d73a845c708d99 @default.