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- NCIT_C192788 IAO_0000115 "A genetic finding indicating that a subject exhibits either homozygous or heterozygous expression of cytosine at position 1100 of the coding sequence of the HSD3B1 gene. This sequence encodes threonine at amino acid residue 367 of the 3 beta-hydroxysteroid dehydrogenase/Delta 5->4-isomerase type 1 protein (steroid Delta-isomerase) and is associated with decreased proteasomal degradation of steroid Delta-isomerase and an increased rate of conversion of dehydroepiandrosterone (DHEA) to androstenedione and more potent androgens, such as testosterone and dihydrotestosterone. Expression of this form of steroid Delta-isomerase may both affect progression of prostate and other hormone-responsive cancers and have an impact on therapeutic efficacy." @default.
- NCIT_C192788 NCIT_A13 NCIT_C114367 @default.
- NCIT_C192788 NCIT_NHC0 "C192788" @default.
- NCIT_C192788 NCIT_P106 "Laboratory or Test Result" @default.
- NCIT_C192788 NCIT_P107 "HSD3B1 1245C Positive" @default.
- NCIT_C192788 NCIT_P108 "Adrenal-Permissive HSD3B1 Genotype" @default.
- NCIT_C192788 NCIT_P322 "CTRP" @default.
- NCIT_C192788 normalizedInformationContent "100" @default.
- NCIT_C192788 referenceCount "1" @default.
- NCIT_C192788 hasExactSynonym "Adrenal Permissive HSD3B1(1245C) Positive" @default.
- NCIT_C192788 hasExactSynonym "Adrenal Permissive HSD3B1(1245C)" @default.
- NCIT_C192788 hasExactSynonym "Adrenal-Permissive HSD3B1 Genotype" @default.
- NCIT_C192788 hasExactSynonym "HSD3B1 (1245A/C) or HSD3B1 (1245C/C)" @default.
- NCIT_C192788 hasExactSynonym "HSD3B1 (1245A>C) Positive" @default.
- NCIT_C192788 hasExactSynonym "HSD3B1 1245C Positive" @default.
- NCIT_C192788 hasExactSynonym "HSD3B1(1245C) Positive" @default.
- NCIT_C192788 hasExactSynonym "Homozygous or Heterozygous Expression of HSD3B1 NM_000862.2:c.1100=" @default.
- NCIT_C192788 inSubset NCIT_C116977 @default.
- NCIT_C192788 inSubset NCIT_C142799 @default.
- NCIT_C192788 inSubset NCIT_C142800 @default.
- NCIT_C192788 type Class @default.
- NCIT_C192788 isDefinedBy ncit.owl @default.
- NCIT_C192788 label "Adrenal-Permissive HSD3B1 Genotype" @default.
- NCIT_C192788 subClassOf NCIT_C103223 @default.
- NCIT_C192788 subClassOf NCIT_C177692 @default.
- NCIT_C192788 subClassOf NCIT_C192788 @default.
- NCIT_C192788 subClassOf NCIT_C3367 @default.
- NCIT_C192788 subClassOf NCIT_C35682 @default.
- NCIT_C192788 subClassOf NCIT_C36292 @default.
- NCIT_C192788 subClassOf NCIT_C7057 @default.
- NCIT_C192788 subClassOf NCIT_C77140 @default.