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- NCIT_C157081 IAO_0000115 "Human MFSD8 wild-type allele is located in the vicinity of 4q28.2 and is approximately 48 kb in length. This allele, which encodes major facilitator superfamily domain-containing protein 8, plays a role in lysosome activity. Missense mutations in the gene are associated with both macular dystrophy with central cone involvement and late infantile-onset neuronal ceroid lipofuscinosis (vLINCL; neuronal ceroid lipofuscinosis type 7; CLN7 Batten disease)." @default.
- NCIT_C157081 NCIT_NHC0 "C157081" @default.
- NCIT_C157081 NCIT_P100 "611124" @default.
- NCIT_C157081 NCIT_P102 "AK074564" @default.
- NCIT_C157081 NCIT_P106 "Gene or Genome" @default.
- NCIT_C157081 NCIT_P108 "MFSD8 wt Allele" @default.
- NCIT_C157081 NCIT_P208 "CL936788" @default.
- NCIT_C157081 NCIT_P321 "256471" @default.
- NCIT_C157081 NCIT_R130 NCIT_C18611 @default.
- NCIT_C157081 NCIT_R130 NCIT_C20633 @default.
- NCIT_C157081 NCIT_R130 NCIT_C39702 @default.
- NCIT_C157081 NCIT_R130 NCIT_C91440 @default.
- NCIT_C157081 NCIT_R37 NCIT_C17710 @default.
- NCIT_C157081 NCIT_R37 NCIT_C17828 @default.
- NCIT_C157081 NCIT_R37 NCIT_C18219 @default.
- NCIT_C157081 NCIT_R37 NCIT_C19986 @default.
- NCIT_C157081 NCIT_R37 NCIT_C20139 @default.
- NCIT_C157081 NCIT_R37 NCIT_C21079 @default.
- NCIT_C157081 NCIT_R37 NCIT_C28498 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14182 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14225 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14234 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14250 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14262 @default.
- NCIT_C157081 NCIT_R41 NCIT_C14282 @default.
- NCIT_C157081 NCIT_R41 NCIT_C25796 @default.
- NCIT_C157081 NCIT_R41 NCIT_C79740 @default.
- NCIT_C157081 normalizedInformationContent "100" @default.
- NCIT_C157081 referenceCount "1" @default.
- NCIT_C157081 hasExactSynonym "CCMD" @default.
- NCIT_C157081 hasExactSynonym "CLN7" @default.
- NCIT_C157081 hasExactSynonym "Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile Gene" @default.
- NCIT_C157081 hasExactSynonym "Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant Gene" @default.
- NCIT_C157081 hasExactSynonym "MFSD8 wt Allele" @default.
- NCIT_C157081 hasExactSynonym "MGC33302" @default.
- NCIT_C157081 hasExactSynonym "Major Facilitator Superfamily Domain Containing 8 wt Allele" @default.
- NCIT_C157081 type Class @default.
- NCIT_C157081 isDefinedBy ncit.owl @default.
- NCIT_C157081 label "MFSD8 wt Allele" @default.
- NCIT_C157081 subClassOf B4b658ce33dac73aae3a67a2cdb1b18f4 @default.
- NCIT_C157081 subClassOf Beb12cc794a39149f52d35704dcf7e898 @default.
- NCIT_C157081 subClassOf NCIT_C157080 @default.
- NCIT_C157081 subClassOf NCIT_C157081 @default.
- NCIT_C157081 subClassOf NCIT_C16612 @default.
- NCIT_C157081 subClassOf NCIT_C21295 @default.
- NCIT_C157081 subClassOf NCIT_C28533 @default.