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- NCIT_C101399 IAO_0000115 "Human C9orf72 wild-type allele is located in the vicinity of 9p21.2 and is approximately 27 kb in length. This allele, which encodes guanine nucleotide exchange factor C9orf72 protein, is involved in guanyl-nucleotide exchange activity that mediates cellular stress responses and regulates autophagy. An expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72 gene is associated with amyotrophic lateral sclerosis and frontotemporal dementia." @default.
- NCIT_C101399 NCIT_NHC0 "C101399" @default.
- NCIT_C101399 NCIT_P100 "614260" @default.
- NCIT_C101399 NCIT_P102 "AL832467" @default.
- NCIT_C101399 NCIT_P106 "Gene or Genome" @default.
- NCIT_C101399 NCIT_P108 "C9orf72 wt Allele" @default.
- NCIT_C101399 NCIT_P207 "C3538797" @default.
- NCIT_C101399 NCIT_P321 "203228" @default.
- NCIT_C101399 NCIT_R130 NCIT_C18611 @default.
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- NCIT_C101399 NCIT_R130 NCIT_C91430 @default.
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- NCIT_C101399 NCIT_R37 NCIT_C21067 @default.
- NCIT_C101399 NCIT_R37 NCIT_C71427 @default.
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- NCIT_C101399 NCIT_R40 NCIT_C13432 @default.
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- NCIT_C101399 NCIT_R40 NCIT_C14135 @default.
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- NCIT_C101399 NCIT_R40 NCIT_C34070 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14182 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14225 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14234 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14250 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14262 @default.
- NCIT_C101399 NCIT_R41 NCIT_C14282 @default.
- NCIT_C101399 NCIT_R41 NCIT_C25796 @default.
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- NCIT_C101399 normalizedInformationContent "100" @default.
- NCIT_C101399 referenceCount "1" @default.
- NCIT_C101399 hasExactSynonym "ALSFTD" @default.
- NCIT_C101399 hasExactSynonym "C9orf72 wt Allele" @default.
- NCIT_C101399 hasExactSynonym "C9orf72-SMCR8 Complex Subunit wt Allele" @default.
- NCIT_C101399 hasExactSynonym "Chromosome 9 Open Reading Frame 72 Gene" @default.
- NCIT_C101399 hasExactSynonym "DENND9" @default.
- NCIT_C101399 hasExactSynonym "DENNL72" @default.
- NCIT_C101399 hasExactSynonym "FTDALS" @default.
- NCIT_C101399 hasExactSynonym "Guanine Nucleotide Exchange C9orf72 Gene" @default.
- NCIT_C101399 hasExactSynonym "MGC23980" @default.
- NCIT_C101399 hasExactSynonym "RP11-27J8.2" @default.
- NCIT_C101399 type Class @default.
- NCIT_C101399 isDefinedBy ncit.owl @default.
- NCIT_C101399 label "C9orf72 wt Allele" @default.
- NCIT_C101399 subClassOf NCIT_C101398 @default.
- NCIT_C101399 subClassOf NCIT_C101399 @default.
- NCIT_C101399 subClassOf NCIT_C16612 @default.
- NCIT_C101399 subClassOf NCIT_C20921 @default.
- NCIT_C101399 equivalentClass Bb76e23a222ab2c8b1fa07d28c1a6fdf8 @default.
- NCIT_C101399 equivalentClass Bc3b274aa469b9f0a5caee38292d1fee5 @default.