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- NCIT_C201103 IAO_0000115 "Human ESPN wild-type allele is located in the vicinity of 1p36.31 and is approximately 37 kb in length. This allele, which encodes espin protein, plays a role in microvillus formation, function and maintenance in mechanosensory and chemosensory cells. Mutation of the gene is associated with type 1M Usher syndrome, autosomal recessive neurosensory deafness type 36 and autosomal dominant sensorineural deafness without vestibular involvement." @default.
- NCIT_C201103 NCIT_NHC0 "C201103" @default.
- NCIT_C201103 NCIT_P100 "606351" @default.
- NCIT_C201103 NCIT_P102 "AF134401" @default.
- NCIT_C201103 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201103 NCIT_P108 "ESPN wt Allele" @default.
- NCIT_C201103 NCIT_P321 "83715" @default.
- NCIT_C201103 NCIT_R37 NCIT_C16670 @default.
- NCIT_C201103 NCIT_R37 NCIT_C17828 @default.
- NCIT_C201103 NCIT_R37 NCIT_C19988 @default.
- NCIT_C201103 NCIT_R37 NCIT_C19989 @default.
- NCIT_C201103 NCIT_R37 NCIT_C20480 @default.
- NCIT_C201103 NCIT_R37 NCIT_C20748 @default.
- NCIT_C201103 NCIT_R37 NCIT_C20768 @default.
- NCIT_C201103 NCIT_R37 NCIT_C21074 @default.
- NCIT_C201103 NCIT_R37 NCIT_C40795 @default.
- NCIT_C201103 NCIT_R37 NCIT_C41517 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14182 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14225 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14234 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14250 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14262 @default.
- NCIT_C201103 NCIT_R41 NCIT_C14282 @default.
- NCIT_C201103 NCIT_R41 NCIT_C25796 @default.
- NCIT_C201103 NCIT_R41 NCIT_C79740 @default.
- NCIT_C201103 normalizedInformationContent "100" @default.
- NCIT_C201103 referenceCount "1" @default.
- NCIT_C201103 hasExactSynonym "DFNB36" @default.
- NCIT_C201103 hasExactSynonym "Deafness, Autosomal Recessive 36 Gene" @default.
- NCIT_C201103 hasExactSynonym "ESPN wt Allele" @default.
- NCIT_C201103 hasExactSynonym "Espin wt Allele" @default.
- NCIT_C201103 hasExactSynonym "Espin, Mouse, Homolog of Gene" @default.
- NCIT_C201103 hasExactSynonym "LP2654" @default.
- NCIT_C201103 hasExactSynonym "USH1M" @default.
- NCIT_C201103 type Class @default.
- NCIT_C201103 isDefinedBy ncit.owl @default.
- NCIT_C201103 label "ESPN wt Allele" @default.
- NCIT_C201103 subClassOf NCIT_C16612 @default.
- NCIT_C201103 subClassOf NCIT_C201102 @default.
- NCIT_C201103 subClassOf NCIT_C201103 @default.
- NCIT_C201103 subClassOf NCIT_C20744 @default.
- NCIT_C201103 subClassOf NCIT_C20745 @default.