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- NCIT_C182138 IAO_0000115 "Human COL17A1 wild-type allele is located in the vicinity of 10q25.1 and is approximately 55 kb in length. This allele, which encodes collagen alpha-1(XVII) chain protein, is involved in hemidesmosome formation and keratinocyte adhesion. Mutation of the gene and immunoreactivity during revertant mosaicism is associated with both generalized atrophic benign and junctional epidermolysis bullosa. Mutations in the gene are also associated with epithelial recurrent erosion dystrophy." @default.
- NCIT_C182138 NCIT_NHC0 "C182138" @default.
- NCIT_C182138 NCIT_P100 "113811" @default.
- NCIT_C182138 NCIT_P102 "M91669" @default.
- NCIT_C182138 NCIT_P106 "Gene or Genome" @default.
- NCIT_C182138 NCIT_P107 "COL17A1 wt Allele" @default.
- NCIT_C182138 NCIT_P108 "COL17A1 wt Allele" @default.
- NCIT_C182138 NCIT_P208 "CL1770626" @default.
- NCIT_C182138 NCIT_P321 "1308" @default.
- NCIT_C182138 NCIT_P322 "CTRP" @default.
- NCIT_C182138 NCIT_R130 NCIT_C20633 @default.
- NCIT_C182138 NCIT_R130 NCIT_C39703 @default.
- NCIT_C182138 NCIT_R130 NCIT_C91534 @default.
- NCIT_C182138 NCIT_R37 NCIT_C16402 @default.
- NCIT_C182138 NCIT_R37 NCIT_C16879 @default.
- NCIT_C182138 NCIT_R37 NCIT_C17083 @default.
- NCIT_C182138 NCIT_R37 NCIT_C17260 @default.
- NCIT_C182138 NCIT_R37 NCIT_C17729 @default.
- NCIT_C182138 NCIT_R37 NCIT_C17828 @default.
- NCIT_C182138 NCIT_R37 NCIT_C20191 @default.
- NCIT_C182138 NCIT_R37 NCIT_C20480 @default.
- NCIT_C182138 NCIT_R37 NCIT_C21101 @default.
- NCIT_C182138 NCIT_R37 NCIT_C21124 @default.
- NCIT_C182138 NCIT_R37 NCIT_C21128 @default.
- NCIT_C182138 NCIT_R37 NCIT_C21147 @default.
- NCIT_C182138 NCIT_R37 NCIT_C28486 @default.
- NCIT_C182138 NCIT_R37 NCIT_C41514 @default.
- NCIT_C182138 NCIT_R37 NCIT_C41517 @default.
- NCIT_C182138 NCIT_R40 NCIT_C12219 @default.
- NCIT_C182138 NCIT_R40 NCIT_C13282 @default.
- NCIT_C182138 NCIT_R40 NCIT_C13377 @default.
- NCIT_C182138 NCIT_R40 NCIT_C13432 @default.
- NCIT_C182138 NCIT_R40 NCIT_C13446 @default.
- NCIT_C182138 NCIT_R40 NCIT_C14135 @default.
- NCIT_C182138 NCIT_R40 NCIT_C24906 @default.
- NCIT_C182138 NCIT_R40 NCIT_C32221 @default.
- NCIT_C182138 NCIT_R40 NCIT_C34070 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14182 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14225 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14234 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14250 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14262 @default.
- NCIT_C182138 NCIT_R41 NCIT_C14282 @default.
- NCIT_C182138 NCIT_R41 NCIT_C25796 @default.
- NCIT_C182138 NCIT_R41 NCIT_C79740 @default.
- NCIT_C182138 normalizedInformationContent "100" @default.
- NCIT_C182138 referenceCount "1" @default.
- NCIT_C182138 hasExactSynonym "BA16H23.2 (Collagen, Type XVII, Alpha 1 (BP180)) Gene" @default.
- NCIT_C182138 hasExactSynonym "BA16H23.2" @default.
- NCIT_C182138 hasExactSynonym "BP180" @default.
- NCIT_C182138 hasExactSynonym "BPA-2" @default.
- NCIT_C182138 hasExactSynonym "BPAG2" @default.
- NCIT_C182138 hasExactSynonym "Bullous Pemphigoid Antigen 2 (180kD) Gene" @default.
- NCIT_C182138 hasExactSynonym "COL17A1 wt Allele" @default.
- NCIT_C182138 hasExactSynonym "Collagen Type XVII Alpha 1 Chain wt Allele" @default.
- NCIT_C182138 hasExactSynonym "Collagen, Type XVII, Alpha 1 Gene" @default.
- NCIT_C182138 hasExactSynonym "Collagen, Type XVII, Alpha-1 Gene" @default.
- NCIT_C182138 hasExactSynonym "ERED" @default.
- NCIT_C182138 hasExactSynonym "LAD-1" @default.
- NCIT_C182138 inSubset NCIT_C116977 @default.
- NCIT_C182138 inSubset NCIT_C142799 @default.
- NCIT_C182138 inSubset NCIT_C142800 @default.
- NCIT_C182138 type Class @default.
- NCIT_C182138 isDefinedBy ncit.owl @default.
- NCIT_C182138 label "COL17A1 wt Allele" @default.
- NCIT_C182138 subClassOf NCIT_C16612 @default.
- NCIT_C182138 subClassOf NCIT_C182137 @default.
- NCIT_C182138 subClassOf NCIT_C182138 @default.
- NCIT_C182138 subClassOf NCIT_C20744 @default.
- NCIT_C182138 subClassOf NCIT_C26000 @default.
- NCIT_C182138 subClassOf NCIT_C26001 @default.
- NCIT_C182138 equivalentClass B008bc54e41ef1d939dea08ce167723b2 @default.
- NCIT_C182138 equivalentClass Be4851c00b52cd20864e74193fb2f56a2 @default.