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- NCIT_C125445 IAO_0000115 "Human PFN1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 3 kb in length. This allele, which encodes profilin-1 protein, is involved in cytoskeleton regulation. Deletion of the gene may be associated with Miller-Dieker syndrome and mutation of the gene is associated with amyotrophic lateral sclerosis 18." @default.
- NCIT_C125445 NCIT_NHC0 "C125445" @default.
- NCIT_C125445 NCIT_P100 "176610" @default.
- NCIT_C125445 NCIT_P102 "BC057828" @default.
- NCIT_C125445 NCIT_P106 "Gene or Genome" @default.
- NCIT_C125445 NCIT_P108 "PFN1 wt Allele" @default.
- NCIT_C125445 NCIT_P207 "C4085182" @default.
- NCIT_C125445 NCIT_P321 "5216" @default.
- NCIT_C125445 NCIT_P98 "The protein encoded by the PFN1 gene interacts with huntingtin protein and may play a role in Huntington disease." @default.
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- NCIT_C125445 normalizedInformationContent "100" @default.
- NCIT_C125445 referenceCount "1" @default.
- NCIT_C125445 hasExactSynonym "ALS18" @default.
- NCIT_C125445 hasExactSynonym "PFN1 wt Allele" @default.
- NCIT_C125445 hasExactSynonym "Profilin 1 wt Allele" @default.
- NCIT_C125445 type Class @default.
- NCIT_C125445 isDefinedBy ncit.owl @default.
- NCIT_C125445 label "PFN1 wt Allele" @default.
- NCIT_C125445 subClassOf NCIT_C125444 @default.
- NCIT_C125445 subClassOf NCIT_C125445 @default.
- NCIT_C125445 subClassOf NCIT_C16612 @default.
- NCIT_C125445 subClassOf NCIT_C21295 @default.
- NCIT_C125445 equivalentClass B5098d044921d079472590f82e667f80e @default.
- NCIT_C125445 equivalentClass Bb0134af9eb40c0326538c0989e531402 @default.