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• NCIT_C52145 IAO_0000115 "Human PAX3 wild-type allele is located within 2q35-q37 and is approximately 99 kb in length. This allele, which encodes paired box gene Pax-3 protein, plays a role in transcriptional regulation that is critical for fetal development. Mutations in this gene are associated with Waardenburg syndrome, and craniofacial-deafness-hand syndrome. Also, mutations or translocations involving the gene are associated with alveolar rhabdomyosarcoma. The rhabdomyosarcoma-related PAX3 gene translocations include t(2;13)(q35;q14) with the FOXO1 gene and t(2;2)(q35;p23) with the NCOA1 gene." @default.
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• NCIT_C52145 NCIT_P106 "Gene or Genome" @default.
• NCIT_C52145 NCIT_P107 "PAX3 wt Allele" @default.
• NCIT_C52145 NCIT_P108 "PAX3 wt Allele" @default.
• NCIT_C52145 NCIT_P207 "C1705528" @default.
• NCIT_C52145 NCIT_P211 "apoptosis" @default.
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• NCIT_C52145 NCIT_P211 "neurogenesis" @default.
• NCIT_C52145 NCIT_P211 "transcription factor activity" @default.
• NCIT_C52145 NCIT_P211 "transcription from Pol II promoter" @default.
• NCIT_C52145 NCIT_P321 "5077" @default.
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• NCIT_C52145 normalizedInformationContent "100" @default.
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• NCIT_C52145 hasExactSynonym "CDHS" @default.
• NCIT_C52145 hasExactSynonym "HUP2" @default.
• NCIT_C52145 hasExactSynonym "PAX3 wt Allele" @default.
• NCIT_C52145 hasExactSynonym "Paired Box Gene 3 (Waardenburg Syndrome 1) wt Allele" @default.
• NCIT_C52145 hasExactSynonym "Paired Box Gene 3" @default.
• NCIT_C52145 hasExactSynonym "Paired Box Homeotic Gene 3" @default.
• NCIT_C52145 hasExactSynonym "Paired Domain Gene HuP2" @default.
• NCIT_C52145 hasExactSynonym "WS1" @default.
• NCIT_C52145 hasExactSynonym "WS3" @default.
• NCIT_C52145 inSubset NCIT_C116977 @default.
• NCIT_C52145 inSubset NCIT_C142799 @default.
• NCIT_C52145 inSubset NCIT_C142800 @default.

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