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- NCIT_C190661 IAO_0000115 "Human TBCE wild-type allele is located in the vicinity of 1q42.3 and is approximately 85 kb in length. This allele, which encodes tubulin-specific chaperone E protein, is involved in both tubulin folding and tubulin dimer dissociation. Mutations in the gene are associated with progressive encephalopathy with amyotrophy and optic atrophy, hypoparathyroidism-retardation-dysmorphism syndrome and Kenny-Caffey syndrome 1." @default.
- NCIT_C190661 NCIT_NHC0 "C190661" @default.
- NCIT_C190661 NCIT_P100 "604934" @default.
- NCIT_C190661 NCIT_P102 "U61232" @default.
- NCIT_C190661 NCIT_P106 "Gene or Genome" @default.
- NCIT_C190661 NCIT_P108 "TBCE wt Allele" @default.
- NCIT_C190661 NCIT_P208 "CL1799083" @default.
- NCIT_C190661 NCIT_P321 "6905" @default.
- NCIT_C190661 NCIT_R37 NCIT_C118900 @default.
- NCIT_C190661 NCIT_R37 NCIT_C16397 @default.
- NCIT_C190661 NCIT_R37 NCIT_C16956 @default.
- NCIT_C190661 NCIT_R37 NCIT_C17568 @default.
- NCIT_C190661 NCIT_R37 NCIT_C17710 @default.
- NCIT_C190661 NCIT_R37 NCIT_C17828 @default.
- NCIT_C190661 NCIT_R37 NCIT_C18146 @default.
- NCIT_C190661 NCIT_R37 NCIT_C18219 @default.
- NCIT_C190661 NCIT_R37 NCIT_C19986 @default.
- NCIT_C190661 NCIT_R37 NCIT_C20149 @default.
- NCIT_C190661 NCIT_R37 NCIT_C20349 @default.
- NCIT_C190661 NCIT_R37 NCIT_C20480 @default.
- NCIT_C190661 NCIT_R37 NCIT_C21065 @default.
- NCIT_C190661 NCIT_R37 NCIT_C21067 @default.
- NCIT_C190661 NCIT_R37 NCIT_C21079 @default.
- NCIT_C190661 NCIT_R37 NCIT_C21102 @default.
- NCIT_C190661 NCIT_R37 NCIT_C28498 @default.
- NCIT_C190661 NCIT_R37 NCIT_C40549 @default.
- NCIT_C190661 NCIT_R37 NCIT_C40795 @default.
- NCIT_C190661 NCIT_R37 NCIT_C40798 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14182 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14225 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14234 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14250 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14262 @default.
- NCIT_C190661 NCIT_R41 NCIT_C14282 @default.
- NCIT_C190661 NCIT_R41 NCIT_C25796 @default.
- NCIT_C190661 NCIT_R41 NCIT_C79740 @default.
- NCIT_C190661 normalizedInformationContent "100" @default.
- NCIT_C190661 referenceCount "1" @default.
- NCIT_C190661 hasExactSynonym "HRD" @default.
- NCIT_C190661 hasExactSynonym "Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism Gene" @default.
- NCIT_C190661 hasExactSynonym "KCS" @default.
- NCIT_C190661 hasExactSynonym "KCS1" @default.
- NCIT_C190661 hasExactSynonym "Kenny-Caffey Syndrome Gene" @default.
- NCIT_C190661 hasExactSynonym "PEAMO" @default.
- NCIT_C190661 hasExactSynonym "TBCE wt Allele" @default.
- NCIT_C190661 hasExactSynonym "Tubulin Folding Cofactor E wt Allele" @default.
- NCIT_C190661 hasExactSynonym "pac2" @default.
- NCIT_C190661 type Class @default.
- NCIT_C190661 isDefinedBy ncit.owl @default.
- NCIT_C190661 label "TBCE wt Allele" @default.
- NCIT_C190661 subClassOf NCIT_C16612 @default.
- NCIT_C190661 subClassOf NCIT_C190660 @default.
- NCIT_C190661 subClassOf NCIT_C190661 @default.
- NCIT_C190661 subClassOf NCIT_C25802 @default.