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- NCIT_C75305 IAO_0000115 "Human CDKL5 wild-type allele is located in the vicinity of Xp22 and is approximately 228 kb in length. This allele, which encodes cyclin-dependent kinase-like 5 protein, is involved in the mediation of protein phosphorylation. Translocations and mutations involving the gene are associated with X-linked infantile spasm syndrome 2. Rett syndrome also is associated with defects in the gene." @default.
- NCIT_C75305 NCIT_NHC0 "C75305" @default.
- NCIT_C75305 NCIT_P100 "300203" @default.
- NCIT_C75305 NCIT_P102 "Y15057" @default.
- NCIT_C75305 NCIT_P106 "Gene or Genome" @default.
- NCIT_C75305 NCIT_P108 "CDKL5 wt Allele" @default.
- NCIT_C75305 NCIT_P207 "C2698719" @default.
- NCIT_C75305 NCIT_P321 "6792" @default.
- NCIT_C75305 NCIT_P366 "CDKL5_wt_Allele" @default.
- NCIT_C75305 NCIT_P98 "Translocations, t(X;7)(p22.3;p15) or t(X;6)(p22.3;q14) disrupt the sequence of the CDKL5 gene and are associated with X-linked infantile spasm syndrome 2. (OMIM)" @default.
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- NCIT_C75305 hasExactSynonym "CDKL5 wt Allele" @default.
- NCIT_C75305 hasExactSynonym "Cyclin-Dependent Kinase-Like 5 wt Allele" @default.
- NCIT_C75305 hasExactSynonym "ISSX" @default.
- NCIT_C75305 hasExactSynonym "STK9" @default.
- NCIT_C75305 type Class @default.
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- NCIT_C75305 label "CDKL5 wt Allele" @default.
- NCIT_C75305 subClassOf NCIT_C16612 @default.
- NCIT_C75305 subClassOf NCIT_C21281 @default.
- NCIT_C75305 subClassOf NCIT_C25870 @default.
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