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- NCIT_C176519 IAO_0000115 "Human HAX1 wild-type allele is located in the vicinity of 1q21.3 and is approximately 3 kb in length. This allele, which encodes HCLS1-associated protein X-1, is involved in cytokine signaling, clathrin-mediated endocytosis and cytoskeletal remodeling. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 3 (SCN3; Kostmann disease)." @default.
- NCIT_C176519 NCIT_NHC0 "C176519" @default.
- NCIT_C176519 NCIT_P100 "605998" @default.
- NCIT_C176519 NCIT_P102 "U68566" @default.
- NCIT_C176519 NCIT_P106 "Gene or Genome" @default.
- NCIT_C176519 NCIT_P108 "HAX1 wt Allele" @default.
- NCIT_C176519 NCIT_P208 "CL1642370" @default.
- NCIT_C176519 NCIT_P321 "10456" @default.
- NCIT_C176519 NCIT_R37 NCIT_C16674 @default.
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- NCIT_C176519 NCIT_R37 NCIT_C19143 @default.
- NCIT_C176519 NCIT_R37 NCIT_C20480 @default.
- NCIT_C176519 NCIT_R37 NCIT_C20768 @default.
- NCIT_C176519 NCIT_R37 NCIT_C21124 @default.
- NCIT_C176519 NCIT_R37 NCIT_C21128 @default.
- NCIT_C176519 NCIT_R37 NCIT_C21147 @default.
- NCIT_C176519 NCIT_R37 NCIT_C26080 @default.
- NCIT_C176519 NCIT_R37 NCIT_C40584 @default.
- NCIT_C176519 NCIT_R37 NCIT_C40795 @default.
- NCIT_C176519 NCIT_R40 NCIT_C12219 @default.
- NCIT_C176519 NCIT_R40 NCIT_C13282 @default.
- NCIT_C176519 NCIT_R40 NCIT_C13377 @default.
- NCIT_C176519 NCIT_R40 NCIT_C13432 @default.
- NCIT_C176519 NCIT_R40 NCIT_C13446 @default.
- NCIT_C176519 NCIT_R40 NCIT_C14135 @default.
- NCIT_C176519 NCIT_R40 NCIT_C26545 @default.
- NCIT_C176519 NCIT_R40 NCIT_C32221 @default.
- NCIT_C176519 NCIT_R40 NCIT_C34070 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14182 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14225 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14234 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14250 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14262 @default.
- NCIT_C176519 NCIT_R41 NCIT_C14282 @default.
- NCIT_C176519 NCIT_R41 NCIT_C25796 @default.
- NCIT_C176519 NCIT_R41 NCIT_C79740 @default.
- NCIT_C176519 normalizedInformationContent "100" @default.
- NCIT_C176519 referenceCount "1" @default.
- NCIT_C176519 hasExactSynonym "HAX1 wt Allele" @default.
- NCIT_C176519 hasExactSynonym "HCLS1 (and PKD2) Associated Protein Gene" @default.
- NCIT_C176519 hasExactSynonym "HCLS1 Associated Protein X-1wt Allele" @default.
- NCIT_C176519 hasExactSynonym "HCLSBP1" @default.
- NCIT_C176519 hasExactSynonym "HS1BP1" @default.
- NCIT_C176519 hasExactSynonym "SCN3" @default.
- NCIT_C176519 type Class @default.
- NCIT_C176519 isDefinedBy ncit.owl @default.
- NCIT_C176519 label "HAX1 wt Allele" @default.
- NCIT_C176519 subClassOf Bf164b4fe4af70aea20eeacfae125f571 @default.
- NCIT_C176519 subClassOf Bf5f601f6179f31607ecd2401fe1efb36 @default.
- NCIT_C176519 subClassOf NCIT_C16612 @default.
- NCIT_C176519 subClassOf NCIT_C176518 @default.
- NCIT_C176519 subClassOf NCIT_C176519 @default.
- NCIT_C176519 subClassOf NCIT_C20921 @default.