BAP1-Mutant Clear Cell Renal Cell Carcinoma

Preferred Label : BAP1-Mutant Clear Cell Renal Cell Carcinoma;

NCIt definition : A clear cell renal cell carcinoma that is associated with a mutation in BAP1 gene. These tumors are typically high grade and associated with poor outcome.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL937195;

Details

Origin ID

C157614;

UMLS CUI

C4763743;

Disease excludes abnormal cell
- Malignant Squamous Cell [NCIt concept]
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
Disease may have findings
- Bilateral Disease [NCIt concept]
- Calcification [NCIt concept]
- Cystic Change [NCIt concept]
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
- Necrotic Change [NCIt concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Kidney and Ureter [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell [NCIt concept]
- Adenocarcinoma Clear Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Delicate Vascular Network Formation [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- BAP1 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
- Renal Tubular Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Renal Tubule Epithelium [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Renal Tubule [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- BAP1 Gene [NCIt concept]
may_be_associated_disease_of_disease
- BAP1 Tumor Predisposition Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- BAP1 Gene [NCIt concept]
- BAP1 wt Allele [NCIt concept]

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