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- NCIT_C200380 IAO_0000115 "Human CTDP1 wild-type allele is located in the vicinity of 18q23 and is approximately 80 kb in length. This allele, which encodes RNA polymerase II subunit A C-terminal domain phosphatase protein, is involved in dephosphorylation of RNA polymerase II subunit A (POLR2A), which upregulates POLR2A activity. Mutation of the gene is associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN)." @default.
- NCIT_C200380 NCIT_NHC0 "C200380" @default.
- NCIT_C200380 NCIT_P100 "604927" @default.
- NCIT_C200380 NCIT_P102 "AF081287" @default.
- NCIT_C200380 NCIT_P106 "Gene or Genome" @default.
- NCIT_C200380 NCIT_P108 "CTDP1 wt Allele" @default.
- NCIT_C200380 NCIT_P321 "9150" @default.
- NCIT_C200380 NCIT_P98 "Alternatively spliced transcript variants encoding at least two different isoforms have been described for the human CTDP1 gene. (EntrezGene)" @default.
- NCIT_C200380 NCIT_R37 NCIT_C16397 @default.
- NCIT_C200380 NCIT_R37 NCIT_C16702 @default.
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- NCIT_C200380 NCIT_R37 NCIT_C21049 @default.
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- NCIT_C200380 NCIT_R37 NCIT_C21198 @default.
- NCIT_C200380 NCIT_R37 NCIT_C28498 @default.
- NCIT_C200380 NCIT_R41 NCIT_C14182 @default.
- NCIT_C200380 NCIT_R41 NCIT_C14225 @default.
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- NCIT_C200380 NCIT_R41 NCIT_C14282 @default.
- NCIT_C200380 NCIT_R41 NCIT_C25796 @default.
- NCIT_C200380 NCIT_R41 NCIT_C79740 @default.
- NCIT_C200380 normalizedInformationContent "100" @default.
- NCIT_C200380 referenceCount "1" @default.
- NCIT_C200380 hasExactSynonym "C-Terminal Domain of RNA Polymerase II Subunit A, Phosphatase of, Subunit 1 Gene" @default.
- NCIT_C200380 hasExactSynonym "CCFDN" @default.
- NCIT_C200380 hasExactSynonym "CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Phosphatase, Subunit 1 Gene" @default.
- NCIT_C200380 hasExactSynonym "CTD Phosphatase Subunit 1 wt Allele" @default.
- NCIT_C200380 hasExactSynonym "CTD of POLR2A, Phosphatase of, Subunit 1 Gene" @default.
- NCIT_C200380 hasExactSynonym "CTDP1 wt Allele" @default.
- NCIT_C200380 hasExactSynonym "FCP1" @default.
- NCIT_C200380 type Class @default.
- NCIT_C200380 isDefinedBy ncit.owl @default.
- NCIT_C200380 label "CTDP1 wt Allele" @default.
- NCIT_C200380 subClassOf NCIT_C16612 @default.
- NCIT_C200380 subClassOf NCIT_C200378 @default.
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- NCIT_C200380 subClassOf NCIT_C25804 @default.
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- NCIT_C200380 subClassOf NCIT_C26064 @default.
- NCIT_C200380 subClassOf NCIT_C26070 @default.