RB1 Gene Mutation

Preferred Label : RB1 Gene Mutation;

NCIt synonyms : Retinoblastoma 1 Gene Mutation; RB Gene Mutation; Retinoblastoma Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the RB1 gene.;

NCI Metathesaurus CUI : CL520210;

Details

Origin ID

C133696;

UMLS CUI

C4524828;

Molecular abnormality of diseases
- Invasive Bladder Clear Cell (Glycogen-Rich) Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Conventional Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Giant Cell Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Large Nested Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Lipid-Rich Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Lymphoepithelioma-Like Carcinoma [NCIt concept]
- Invasive Bladder Microcystic Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Micropapillary Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Nested Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Plasmacytoid Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Poorly Differentiated Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Sarcomatoid Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Sarcomatoid Urothelial Carcinoma with Heterologous Elements [NCIt concept]
- Invasive Bladder Sarcomatoid Urothelial Carcinoma without Heterologous Elements [NCIt concept]
- Invasive Bladder Tubular Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Invasive Bladder Urothelial Carcinoma Associated with Urethral Carcinoma [NCIt concept]
- Invasive Bladder Urothelial Carcinoma with Glandular Differentiation [NCIt concept]
- Invasive Bladder Urothelial Carcinoma with Squamous Differentiation [NCIt concept]
- Invasive Bladder Urothelial Carcinoma with Trophoblastic Differentiation [NCIt concept]
- Invasive Clear Cell (Glycogen-Rich) Urothelial Carcinoma [NCIt concept]
- Invasive Conventional Urothelial Carcinoma [NCIt concept]
- Invasive Giant Cell Urothelial Carcinoma [NCIt concept]
- Invasive Large Nested Urothelial Carcinoma [NCIt concept]
- Invasive Lipid-Rich Urothelial Carcinoma [NCIt concept]
- Invasive Lymphoepithelioma-Like Urothelial Carcinoma [NCIt concept]
- Invasive Microcystic Urothelial Carcinoma [NCIt concept]
- Invasive Micropapillary Urothelial Carcinoma [NCIt concept]
- Invasive Nested Urothelial Carcinoma [NCIt concept]
- Invasive Plasmacytoid Urothelial Carcinoma [NCIt concept]
- Invasive Poorly Differentiated Urothelial Carcinoma [NCIt concept]
- Invasive Renal Pelvis Sarcomatoid Urothelial Carcinoma [NCIt concept]
- Invasive Renal Pelvis and Ureter Urothelial Carcinoma [NCIt concept]
- Invasive Sarcomatoid Urothelial Carcinoma [NCIt concept]
- Invasive Tubular Urothelial Carcinoma [NCIt concept]
- Invasive Ureter Urothelial Carcinoma with Glandular Differentiation [NCIt concept]
- Invasive Ureter Urothelial Carcinoma with Squamous Differentiation [NCIt concept]
- Invasive Urothelial Carcinoma [NCIt concept]
- Invasive Urothelial Carcinoma with Glandular Differentiation [NCIt concept]
- Invasive Urothelial Carcinoma with Squamous Differentiation [NCIt concept]
- Invasive Urothelial Carcinoma with Trophoblastic Differentiation [NCIt concept]
- Localized Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Localized Non-Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Clear Cell (Glycogen-Rich) Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Giant Cell Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Lipid-Rich Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Micropapillary Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Nested Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Plasmacytoid Urothelial Carcinoma [NCIt concept]
- Metastatic Bladder Sarcomatoid Urothelial Carcinoma [NCIt concept]
- Metastatic Clear Cell (Glycogen-Rich) Urothelial Carcinoma [NCIt concept]
- Metastatic Giant Cell Urothelial Carcinoma [NCIt concept]
- Metastatic Lipid-Rich Urothelial Carcinoma [NCIt concept]
- Metastatic Micropapillary Urothelial Carcinoma [NCIt concept]
- Metastatic Nested Urothelial Carcinoma [NCIt concept]
- Metastatic Plasmacytoid Urothelial Carcinoma [NCIt concept]
- Metastatic Sarcomatoid Urothelial Carcinoma [NCIt concept]
- Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Non-Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Recurrent Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Recurrent Non-Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Refractory Non-Muscle Invasive Bladder Urothelial Carcinoma [NCIt concept]
- Retinocytoma [NCIt concept]
- Stage I Bladder Urothelial Carcinoma AJCC v6 and v7 [NCIt concept]
- Stage II Bladder Urothelial Carcinoma AJCC v6 and v7 [NCIt concept]
- Stage III Bladder Urothelial Carcinoma AJCC v6 and v7 [NCIt concept]
- Stage IV Bladder Urothelial Carcinoma AJCC v7 [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Bilateral Retinoblastoma [NCIt concept]
- Childhood Extraocular Retinoblastoma [NCIt concept]
- Childhood Intraocular Retinoblastoma [NCIt concept]
- Childhood Retinoblastoma by Toronto Guidelines v2 Stage [NCIt concept]
- Childhood Retinoblastoma by Toronto Guidelines v2 Stage, Tier 1 [NCIt concept]
- Childhood Retinoblastoma by Toronto Guidelines v2 Stage, Tier 2 [NCIt concept]
- Clinical Stage I Retinoblastoma AJCC v8 [NCIt concept]
- Clinical Stage II Retinoblastoma AJCC v8 [NCIt concept]
- Clinical Stage III Retinoblastoma AJCC v8 [NCIt concept]
- Clinical Stage IV Retinoblastoma AJCC v8 [NCIt concept]
- Differentiated Retinoblastoma [NCIt concept]
- Diffuse Retinoblastoma [NCIt concept]
- Extraocular Retinoblastoma [NCIt concept]
- Hereditary Retinoblastoma [NCIt concept]
- Intraocular Retinoblastoma [NCIt concept]
- Localized Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Metastatic Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Pathologic Stage I Retinoblastoma AJCC v8 [NCIt concept]
- Pathologic Stage II Retinoblastoma AJCC v8 [NCIt concept]
- Pathologic Stage III Retinoblastoma AJCC v8 [NCIt concept]
- Pathologic Stage IV Retinoblastoma AJCC v8 [NCIt concept]
- Pineoblastoma, RB1-Altered [NCIt concept]
- Recurrent Retinoblastoma [NCIt concept]
- Regional Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Retinoblastoma [NCIt concept]
- Retinoblastoma by AJCC v8 Clinical Stage [NCIt concept]
- Retinoblastoma by AJCC v8 Pathologic Stage [NCIt concept]
- Retinoblastoma by AJCC v8 Stage [NCIt concept]
- Sporadic Retinoblastoma [NCIt concept]
- Stage 0 Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Stage I Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Stage II Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Stage III Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Stage IV Childhood Retinoblastoma by Toronto Guidelines v2 [NCIt concept]
- Trilateral Retinoblastoma [NCIt concept]
- Undifferentiated Retinoblastoma [NCIt concept]
- Unilateral Retinoblastoma [NCIt concept]
molecular_abnormality_involves_gene
- RB1 Gene [NCIt concept]

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