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- NCIT_C126633 IAO_0000115 "Human ACTN4 wild-type allele is located in the vicinity of 19q13 and is approximately 84 kb in length. This allele, which encodes alpha-actinin-4 protein, is involved in crosslinking actin to other cellular proteins. Mutations in this gene are associated with focal segmental glomerulosclerosis." @default.
- NCIT_C126633 NCIT_NHC0 "C126633" @default.
- NCIT_C126633 NCIT_P100 "604638" @default.
- NCIT_C126633 NCIT_P102 "D89980" @default.
- NCIT_C126633 NCIT_P106 "Gene or Genome" @default.
- NCIT_C126633 NCIT_P108 "ACTN4 wt Allele" @default.
- NCIT_C126633 NCIT_P208 "CL505068" @default.
- NCIT_C126633 NCIT_P321 "81" @default.
- NCIT_C126633 NCIT_P98 "There is a report of a fusion involving the ACTN4 gene and the KMT2A (MLL) gene. This fusion may be associated with hematopoietic neoplasms. (COSMIC)" @default.
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- NCIT_C126633 normalizedInformationContent "100" @default.
- NCIT_C126633 referenceCount "1" @default.
- NCIT_C126633 hasExactSynonym "ACTININ-4" @default.
- NCIT_C126633 hasExactSynonym "ACTN4 wt Allele" @default.
- NCIT_C126633 hasExactSynonym "Actinin Alpha 4 wt Allele" @default.
- NCIT_C126633 hasExactSynonym "Actinin, Alpha 4 Gene" @default.
- NCIT_C126633 hasExactSynonym "Actinin, Alpha-4 Gene" @default.
- NCIT_C126633 hasExactSynonym "FSGS" @default.
- NCIT_C126633 hasExactSynonym "FSGS1" @default.
- NCIT_C126633 hasExactSynonym "Focal Segmental Glomerulosclerosis 1 Gene" @default.
- NCIT_C126633 type Class @default.
- NCIT_C126633 isDefinedBy ncit.owl @default.
- NCIT_C126633 label "ACTN4 wt Allele" @default.
- NCIT_C126633 subClassOf NCIT_C126632 @default.
- NCIT_C126633 subClassOf NCIT_C126633 @default.
- NCIT_C126633 subClassOf NCIT_C16612 @default.
- NCIT_C126633 subClassOf NCIT_C20744 @default.
- NCIT_C126633 equivalentClass B04bb49294565f147d45abbc6146be8ef @default.
- NCIT_C126633 equivalentClass B06c1cbace980ad44d8be60a1594bd6fc @default.