BAP1 Gene - CISMeF

Preferred Label : BAP1 Gene;

NCIt synonyms : BRCA1 Associated Protein-1 (Ubiquitin Carboxy-Terminal Hydrolase) Gene; BAP1;

CISMeF acronym : BAP1;

NCIt definition : This gene is involved in cellular growth regulation and is purported to have tumor suppression activity.;

Details

Origin ID

C20766;

UMLS CUI

C1332380;

HGNC gene
- BRCA1 associated deubiquitinase 1 [HGNC gene]
OMIM relation
- Brca1-associated protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BAP1 gene [LOINC component]
- BRCA1 associated deubiquitinase 1 [HGNC gene]
- Brca1-associated protein 1 [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Ubiquitin Carboxyl-Terminal Hydrolase BAP1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- BAP1 Gene Mutation [NCIt concept]
- BAP1 Loss of Function Gene Mutation [NCIt concept]
- Deleterious BAP1 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BAP1 Tumor Predisposition Syndrome [NCIt concept]
- BAP1-Inactivated Melanocytoma [NCIt concept]
- BAP1-Mutant Clear Cell Renal Cell Carcinoma [NCIt concept]
- Cutaneous Melanoma [NCIt concept]
- Uveal Melanoma [NCIt concept]
gene_mapped_to_disease
- Advanced Uveal Melanoma [NCIt concept]
- BAP1 Tumor Predisposition Syndrome [NCIt concept]
- BAP1-Inactivated Melanocytoma [NCIt concept]
- BAP1-Mutant Clear Cell Renal Cell Carcinoma [NCIt concept]
- Choroid Epithelioid Cell Melanoma [NCIt concept]
- Choroid Intermediate Cell Type Melanoma [NCIt concept]
- Choroid Melanoma [NCIt concept]
- Choroid Mixed Epithelioid and Spindle Cell Melanoma [NCIt concept]
- Choroid Necrotic Melanoma [NCIt concept]
- Choroid Spindle Cell Melanoma [NCIt concept]
- Choroid Spindle Cell Type A Melanoma [NCIt concept]
- Choroid Spindle Cell Type B Melanoma [NCIt concept]
- Choroidal and Ciliary Body Melanoma by AJCC v8 Stage [NCIt concept]
- Ciliary Body Epithelioid Cell Melanoma [NCIt concept]
- Ciliary Body Intermediate Cell Type Melanoma [NCIt concept]
- Ciliary Body Melanoma [NCIt concept]
- Ciliary Body Mixed Epithelioid and Spindle Cell Melanoma [NCIt concept]
- Ciliary Body Spindle Cell Melanoma [NCIt concept]
- Ciliary Body Spindle Cell Type A Melanoma [NCIt concept]
- Ciliary Body Spindle Cell Type B Melanoma [NCIt concept]
- Combined BAP1-Inactivated Melanocytoma [NCIt concept]
- Iridociliary Melanoma [NCIt concept]
- Iris Epithelioid Cell Melanoma [NCIt concept]
- Iris Intermediate Cell Type Melanoma [NCIt concept]
- Iris Melanoma [NCIt concept]
- Iris Mixed Epithelioid and Spindle Cell Melanoma [NCIt concept]
- Iris Spindle Cell Melanoma [NCIt concept]
- Locally Advanced Unresectable Uveal Melanoma [NCIt concept]
- Medium/Large Size Posterior Uveal Melanoma [NCIt concept]
- Metastatic Choroid Melanoma [NCIt concept]
- Metastatic Uveal Melanoma [NCIt concept]
- Recurrent Uveal Melanoma [NCIt concept]
- Refractory Uveal Melanoma [NCIt concept]
- Small Size Posterior Uveal Melanoma [NCIt concept]
- Stage I Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage I Uveal Melanoma AJCC v7 [NCIt concept]
- Stage II Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage II Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IIA Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IIA Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IIB Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IIB Uveal Melanoma AJCC v7 [NCIt concept]
- Stage III Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage III Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IIIA Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IIIB Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IIIB Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IIIC Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IIIC Uveal Melanoma AJCC v7 [NCIt concept]
- Stage IV Choroidal and Ciliary Body Melanoma AJCC v8 [NCIt concept]
- Stage IV Uveal Melanoma AJCC v7 [NCIt concept]
- Unresectable Uveal Melanoma [NCIt concept]
- Uveal Class 1 Melanoma [NCIt concept]
- Uveal Class 1a Melanoma [NCIt concept]
- Uveal Class 1b Melanoma [NCIt concept]
- Uveal Class 2 Melanoma [NCIt concept]
- Uveal Epithelioid Cell Melanoma [NCIt concept]
- Uveal Intermediate Cell Type Melanoma [NCIt concept]
- Uveal Melanoma [NCIt concept]
- Uveal Melanoma Metastatic in the Liver [NCIt concept]
- Uveal Melanoma by AJCC v7 Stage [NCIt concept]
- Uveal Melanoma by Gene Expression Profile [NCIt concept]
- Uveal Mixed Epithelioid and Spindle Cell Melanoma [NCIt concept]
- Uveal Necrotic Melanoma [NCIt concept]
- Uveal Spindle Cell Melanoma [NCIt concept]
- Uveal Spindle Cell Type A Melanoma [NCIt concept]
- Uveal Spindle Cell Type B Melanoma [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- BAP1 Gene Mutation Negative [NCIt concept]
- BAP1 Loss of Function Mutation Positive [NCIt concept]
- BAP1 Mutation Analysis [NCIt concept]
- BAP1 Negative [NCIt concept]
- BAP1 Tumor Predisposition Syndrome [NCIt concept]

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