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- NCIT_C201162 IAO_0000115 "Human FKTN wild-type allele is located in the vicinity of 9q31.2 and is approximately 96 kb in length. This allele, which encodes ribitol-5-phosphate transferase FKTN protein, plays a role in the maturation of O-linked glycans. Mutation of the gene is associated with Fukuyama-type congenital muscular dystrophy, Walker-Warburg syndrome, limb-girdle muscular dystrophy type 2M and dilated cardiomyopathy type 1X." @default.
- NCIT_C201162 NCIT_NHC0 "C201162" @default.
- NCIT_C201162 NCIT_P100 "607440" @default.
- NCIT_C201162 NCIT_P102 "NM_006731" @default.
- NCIT_C201162 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201162 NCIT_P108 "FKTN wt Allele" @default.
- NCIT_C201162 NCIT_P321 "2218" @default.
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- NCIT_C201162 NCIT_R37 NCIT_C28498 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14182 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14225 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14234 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14250 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14262 @default.
- NCIT_C201162 NCIT_R41 NCIT_C14282 @default.
- NCIT_C201162 NCIT_R41 NCIT_C25796 @default.
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- NCIT_C201162 normalizedInformationContent "100" @default.
- NCIT_C201162 referenceCount "1" @default.
- NCIT_C201162 hasExactSynonym "CMD1X" @default.
- NCIT_C201162 hasExactSynonym "FCMD" @default.
- NCIT_C201162 hasExactSynonym "FKTN wt Allele" @default.
- NCIT_C201162 hasExactSynonym "Fukutin wt Allele" @default.
- NCIT_C201162 hasExactSynonym "Fukuyama Type Congenital Muscular Dystrophy (Fukutin) Gene" @default.
- NCIT_C201162 hasExactSynonym "LGMD2M" @default.
- NCIT_C201162 hasExactSynonym "LGMDR13" @default.
- NCIT_C201162 hasExactSynonym "MDDGA4" @default.
- NCIT_C201162 hasExactSynonym "MDDGB4" @default.
- NCIT_C201162 hasExactSynonym "MDDGC4" @default.
- NCIT_C201162 type Class @default.
- NCIT_C201162 isDefinedBy ncit.owl @default.
- NCIT_C201162 label "FKTN wt Allele" @default.
- NCIT_C201162 subClassOf NCIT_C16612 @default.
- NCIT_C201162 subClassOf NCIT_C201161 @default.
- NCIT_C201162 subClassOf NCIT_C201162 @default.
- NCIT_C201162 subClassOf NCIT_C21281 @default.
- NCIT_C201162 subClassOf NCIT_C25870 @default.
- NCIT_C201162 subClassOf NCIT_C25871 @default.