ABL1 Gene - CISMeF

Preferred Label : ABL1 Gene;

NCIt synonyms : v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene; ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase Gene; ABL;

NCIt related terms : ABL1;

CISMeF acronym : ABL1;

NCIt definition : This gene is involved in cell adhesion, differentiation, division and stress response.;

Détails

Origin ID

C17346;

UMLS CUI

C1412097;

Automatic exact mappings (from CISMeF team)
- ABL proto-oncogene 1, non-receptor tyrosine kinase [ORDO Gene]
- ABL1 gene [LOINC component]
- Abetalipoproteinemia [OMIM Phenotype]
- Abl protooncogene 1, nonreceptor tyrosine kinase [OMIM gene]
- microsomal triglyceride transfer protein [ORDO Gene]
HGNC gene
- ABL proto-oncogene 1, non-receptor tyrosine kinase [HGNC gene]
OMIM relation
- Abl protooncogene 1, nonreceptor tyrosine kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ABL proto-oncogene 1, non-receptor tyrosine kinase [HGNC gene]
- ABL1 gene [LOINC component]
- Abl protooncogene 1, nonreceptor tyrosine kinase [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Pediatric Oncology Target Genes/Proteins Terminology [NCIt concept]
gene_encodes_gene_product
- Tyrosine-Protein Kinase ABL1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ABL Family Protein Overexpression [NCIt concept]
- ABL1 Gene Mutation [NCIt concept]
- ABL1 Gene Rearrangement [NCIt concept]
- ABL1 NP_005148.2:p.A34V [NCIt concept]
- ABL1 Protein Variant [NCIt concept]
- BCR-ABL TKI-Resistant Mutation [NCIt concept]
- BCR-ABL1 Fusion Protein Expression [NCIt concept]
- ETV6-ABL1 Fusion Protein Expression [NCIt concept]
- Philadelphia Chromosome [NCIt concept]
- p190 Fusion Protein Expression [NCIt concept]
- p210 Fusion Protein Expression [NCIt concept]
- p230 Fusion Protein Expression [NCIt concept]
- t(9;12)(q34;p13) [NCIt concept]
- t(9;22)(q34.1;q11.2) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
gene_mapped_to_disease
- Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 with Lymphoid Only Involvement [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 with Multilineage Involvement [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive [NCIt concept]
- Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Phase Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive [NCIt concept]
- Meningeal Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
- Recurrent Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Recurrent B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Recurrent Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Recurrent Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Refractory Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcription [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- ABL Class Rearrangement Positive Ph-Like B Acute Lymphoblastic Leukemia [NCIt concept]
- ABL Family Fusion Gene [NCIt concept]
- ABL Family Fusion Protein [NCIt concept]
- ABL Family Gene Fusion Positive [NCIt concept]
- ABL Positive [NCIt concept]
- ABL1 and ABL2 and PDGFRB Gene Rearrangements in Blood or Tissue by FISH [NCIt concept]
- ABL1/BCR Fusion Gene [NCIt concept]
- BCR/ABL1 Fusion Gene [NCIt concept]
- BCR/ABL1 Fusion Gene p190 [NCIt concept]
- BCR/ABL1 Fusion Gene p210 [NCIt concept]
- BCR/ABL1 Fusion Gene p230 [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1052T>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1075T>G Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1150C>A Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1187A>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1187A>G Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.1457T>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.742C>G Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.749G>A Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.756G>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.756G>T Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.758A>T Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.763G>A Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.764A>T Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.827A>G Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.835G>A Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.895G>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.895G>T Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.944C>T Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.949T>C Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.951C>A Mutation [NCIt concept]
- BCR/ABL1 Fusion Gene with ABL1 NM_005157.4:c.951C>G Mutation [NCIt concept]
- BCR/ABL1 Fusion Negative [NCIt concept]
- BCR/ABL1 Fusion Protein [NCIt concept]
- BCR/ABL1 Fusion Protein Negative [NCIt concept]
- BCR/ABL1 Fusion Protein p190 [NCIt concept]
- BCR/ABL1 Fusion Protein p210 [NCIt concept]
- BCR/ABL1 Fusion Protein p230 [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.D276G [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E255K [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E255V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E279K [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F317L [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F359V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F486S [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.G250E [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.G398R [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.H396P [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.H396R [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L248V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L384M [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.M351T [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Q252H [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.T315A [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.T315I [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.V299L [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Y253F [NCIt concept]
- BCR/ABL1 b2a2 Type Fusion Protein [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- NUP214/ABL1 239 kDa Fusion Protein [NCIt concept]
- NUP214/ABL1 310-333 kDa Fusion Protein [NCIt concept]
- NUP214/ABL1 Fusion Gene [NCIt concept]
- NUP214/ABL1 Fusion Gene Variant 1 [NCIt concept]
- NUP214/ABL1 Fusion Gene Variant 2 [NCIt concept]
- Radiosensitivity Index [NCIt concept]
- t(9;22)(q34.1;q11)(ABL1/BCR) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]

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