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- NCIT_C192738 IAO_0000115 "Human C19orf12 wild-type allele is located in the vicinity of 19q12 and is approximately 17 kb in length. This allele, which encodes protein C19orf12, may be involved in mitochondrial calcium ion homeostasis and cellular stress responses. Nonsense mutations in exon 3 of the gene are associated with neurodegeneration with brain iron accumulation 4 and a missense mutation may be associated with autosomal recessive spastic paraplegia 43." @default.
- NCIT_C192738 NCIT_NHC0 "C192738" @default.
- NCIT_C192738 NCIT_P100 "614297" @default.
- NCIT_C192738 NCIT_P102 "AK057185" @default.
- NCIT_C192738 NCIT_P106 "Gene or Genome" @default.
- NCIT_C192738 NCIT_P108 "C19orf12 wt Allele" @default.
- NCIT_C192738 NCIT_P321 "83636" @default.
- NCIT_C192738 NCIT_R37 NCIT_C16956 @default.
- NCIT_C192738 NCIT_R37 NCIT_C17557 @default.
- NCIT_C192738 NCIT_R37 NCIT_C17710 @default.
- NCIT_C192738 NCIT_R37 NCIT_C17828 @default.
- NCIT_C192738 NCIT_R37 NCIT_C188313 @default.
- NCIT_C192738 NCIT_R37 NCIT_C19536 @default.
- NCIT_C192738 NCIT_R37 NCIT_C20480 @default.
- NCIT_C192738 NCIT_R37 NCIT_C21065 @default.
- NCIT_C192738 NCIT_R37 NCIT_C21067 @default.
- NCIT_C192738 NCIT_R37 NCIT_C25989 @default.
- NCIT_C192738 NCIT_R37 NCIT_C28498 @default.
- NCIT_C192738 NCIT_R37 NCIT_C41515 @default.
- NCIT_C192738 NCIT_R37 NCIT_C71427 @default.
- NCIT_C192738 NCIT_R40 NCIT_C12219 @default.
- NCIT_C192738 NCIT_R40 NCIT_C13282 @default.
- NCIT_C192738 NCIT_R40 NCIT_C13377 @default.
- NCIT_C192738 NCIT_R40 NCIT_C13432 @default.
- NCIT_C192738 NCIT_R40 NCIT_C13446 @default.
- NCIT_C192738 NCIT_R40 NCIT_C14028 @default.
- NCIT_C192738 NCIT_R40 NCIT_C14135 @default.
- NCIT_C192738 NCIT_R40 NCIT_C32221 @default.
- NCIT_C192738 NCIT_R40 NCIT_C34070 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14182 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14225 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14234 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14250 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14262 @default.
- NCIT_C192738 NCIT_R41 NCIT_C14282 @default.
- NCIT_C192738 NCIT_R41 NCIT_C25796 @default.
- NCIT_C192738 NCIT_R41 NCIT_C79740 @default.
- NCIT_C192738 normalizedInformationContent "100" @default.
- NCIT_C192738 referenceCount "1" @default.
- NCIT_C192738 hasExactSynonym "C19orf12 wt Allele" @default.
- NCIT_C192738 hasExactSynonym "Chromosome 19 Open Reading Frame 12 wt Allele" @default.
- NCIT_C192738 hasExactSynonym "DKFZP762D096" @default.
- NCIT_C192738 hasExactSynonym "MGC10922" @default.
- NCIT_C192738 hasExactSynonym "MPAN" @default.
- NCIT_C192738 hasExactSynonym "NBIA3" @default.
- NCIT_C192738 hasExactSynonym "NBIA4" @default.
- NCIT_C192738 hasExactSynonym "Neurodegeneration with Brain Iron Accumulation 4 Gene" @default.
- NCIT_C192738 hasExactSynonym "SPG43" @default.
- NCIT_C192738 hasExactSynonym "Spastic Paraplegia 43 (Autosomal Recessive) Gene" @default.
- NCIT_C192738 type Class @default.
- NCIT_C192738 isDefinedBy ncit.owl @default.
- NCIT_C192738 label "C19orf12 wt Allele" @default.
- NCIT_C192738 subClassOf B22f52e88b7150229d2026225c2a0ff79 @default.
- NCIT_C192738 subClassOf B9bc54a8694cefaacac71e1203eabd0c6 @default.
- NCIT_C192738 subClassOf NCIT_C16612 @default.
- NCIT_C192738 subClassOf NCIT_C192737 @default.
- NCIT_C192738 subClassOf NCIT_C192738 @default.
- NCIT_C192738 subClassOf NCIT_C20194 @default.