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- NCIT_C127000 IAO_0000115 "Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein, is involved in the assembly and function of gap junctions. Mutation in the gene is associated with syndromic deafness." @default.
- NCIT_C127000 NCIT_NHC0 "C127000" @default.
- NCIT_C127000 NCIT_P100 "121011" @default.
- NCIT_C127000 NCIT_P102 "M86849" @default.
- NCIT_C127000 NCIT_P106 "Gene or Genome" @default.
- NCIT_C127000 NCIT_P107 "GJB2 wt Allele" @default.
- NCIT_C127000 NCIT_P108 "GJB2 wt Allele" @default.
- NCIT_C127000 NCIT_P208 "CL507987" @default.
- NCIT_C127000 NCIT_P321 "2706" @default.
- NCIT_C127000 NCIT_P322 "CTRP" @default.
- NCIT_C127000 NCIT_P98 "Mutations in the GJB2 gene are associated with the following syndromes: Bart-Pumphrey syndrome; autosomal dominant deafness types 1A and 3A; hystrix-like ichthyosis with deafness; keratitis-ichthyosis-deafness syndrome; keratoderma, palmoplantar, with deafness; and Vohwinkel syndrome. (OMIM)" @default.
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- NCIT_C127000 NCIT_R37 NCIT_C21079 @default.
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- NCIT_C127000 NCIT_R40 NCIT_C14135 @default.
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- NCIT_C127000 NCIT_R40 NCIT_C34070 @default.
- NCIT_C127000 NCIT_R41 NCIT_C14182 @default.
- NCIT_C127000 NCIT_R41 NCIT_C14225 @default.
- NCIT_C127000 NCIT_R41 NCIT_C14234 @default.
- NCIT_C127000 NCIT_R41 NCIT_C14250 @default.
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- NCIT_C127000 NCIT_R41 NCIT_C25796 @default.
- NCIT_C127000 NCIT_R41 NCIT_C79740 @default.
- NCIT_C127000 normalizedInformationContent "100" @default.
- NCIT_C127000 referenceCount "1" @default.
- NCIT_C127000 hasExactSynonym "CX26" @default.
- NCIT_C127000 hasExactSynonym "DFNA3" @default.
- NCIT_C127000 hasExactSynonym "DFNA3A" @default.
- NCIT_C127000 hasExactSynonym "DFNB1" @default.
- NCIT_C127000 hasExactSynonym "DFNB1A" @default.
- NCIT_C127000 hasExactSynonym "GJB2 wt Allele" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein Beta 2 wt Allele" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein, 26kD Gene" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein, Beta 2, 26kD (Connexin 26) Gene" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein, Beta 2, 26kDa (Connexin 26) Gene" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein, Beta 2, 26kDa Gene" @default.
- NCIT_C127000 hasExactSynonym "Gap Junction Protein, Beta-2 Gene" @default.
- NCIT_C127000 hasExactSynonym "HID" @default.
- NCIT_C127000 hasExactSynonym "KID" @default.
- NCIT_C127000 hasExactSynonym "NSRD1" @default.
- NCIT_C127000 hasExactSynonym "PPK" @default.
- NCIT_C127000 inSubset NCIT_C116977 @default.
- NCIT_C127000 inSubset NCIT_C142799 @default.
- NCIT_C127000 inSubset NCIT_C142800 @default.
- NCIT_C127000 type Class @default.
- NCIT_C127000 isDefinedBy ncit.owl @default.
- NCIT_C127000 label "GJB2 wt Allele" @default.
- NCIT_C127000 subClassOf B4927bd18c01acc6854d68a4ba3d888fa @default.
- NCIT_C127000 subClassOf B789be44be070e6e7dd5d8c26abbfd6a5 @default.
- NCIT_C127000 subClassOf NCIT_C126999 @default.
- NCIT_C127000 subClassOf NCIT_C127000 @default.
- NCIT_C127000 subClassOf NCIT_C16612 @default.
- NCIT_C127000 subClassOf NCIT_C21295 @default.
- NCIT_C127000 subClassOf NCIT_C28533 @default.