ABL1 - ABL proto-oncogene 1, non-receptor tyrosine kinase Gene

Also Known as ABL; JTK7; p150; c-ABL; v-abl; CHDSKM; c-ABL1; BCR-ABL; bcr/abl

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25

About ABL1

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:130,713,043-130,887,675 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues, 32 paralogues and is associated with 141 phenotypes. Ubiquitous expression in endometrium (RPKM 24.7), gall bladder (RPKM 20.6) and 25 other tissues.

Summary

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL1 Products (2)

mRNA Protein Name
NM_007313.3 NP_009297.2 tyrosine-protein kinase ABL1 isoform b
NM_005157.6 NP_005148.2 tyrosine-protein kinase ABL1 isoform a
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
9144171 GOA
enables SH2 domain binding IPI
IPI: Inferred from physical interaction
12384576 GOA
enables SH3 domain binding IPI
IPI: Inferred from physical interaction
7590236 GOA
enables bubble DNA binding IDA
IDA: Inferred from direct assay
9558345 GOA
enables four-way junction DNA binding IDA
IDA: Inferred from direct assay
9558345 GOA
enables kinase activity IMP
IMP: Inferred from mutant phenotype
28288113 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
9144171 GOA
enables manganese ion binding IDA
IDA: Inferred from direct assay
9144171 GOA
enables mitogen-activated protein kinase binding IPI
IPI: Inferred from physical interaction
11121037 GOA
enables neuropilin binding IPI
IPI: Inferred from physical interaction
24863063 GOA
enables non-membrane spanning protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
9461559 GOA
enables non-membrane spanning protein tyrosine kinase activity IMP
IMP: Inferred from mutant phenotype
28428613 GOA
enables phosphotyrosine residue binding IPI
IPI: Inferred from physical interaction
20624904 GOA
enables proline-rich region binding IDA
IDA: Inferred from direct assay
15657060 GOA
enables proline-rich region binding IPI
IPI: Inferred from physical interaction
7590236 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7590236 GOA
enables protein kinase C binding IPI
IPI: Inferred from physical interaction
10713049 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
11120811 GOA
enables protein kinase activity IMP
IMP: Inferred from mutant phenotype
24863063 GOA
enables protein tyrosine kinase activity EXP
EXP: Inferred from Experiment
15657136 GOA
enables protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
7590236 GOA
enables protein tyrosine kinase activity IMP
IMP: Inferred from mutant phenotype
22810897 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
9558345 GOA
NOT enables supercoiled DNA binding IDA
IDA: Inferred from direct assay
9558345 GOA
enables syntaxin binding IPI
IPI: Inferred from physical interaction
23006999 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA conformation change IDA
IDA: Inferred from direct assay
9558345 GOA
involved in DNA damage response IDA
IDA: Inferred from direct assay
15657060 GOA
involved in activation of protein kinase C activity IDA
IDA: Inferred from direct assay
10713049 GOA
involved in cellular response to hydrogen peroxide IDA
IDA: Inferred from direct assay
10713049 GOA
involved in endothelial cell migration IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in integrin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in negative regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
9461559 GOA
involved in negative regulation of protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
11121037 GOA
acts upstream of or within negative regulation of ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
20823226 GOA
involved in neuropilin signaling pathway IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in peptidyl-tyrosine autophosphorylation IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
7590236 GOA
involved in peptidyl-tyrosine phosphorylation IMP
IMP: Inferred from mutant phenotype
24520051 GOA
acts upstream of or within phospholipase C-inhibiting G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
24367707 GOA
involved in platelet-derived growth factor receptor-beta signaling pathway IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in positive regulation of actin filament binding IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
9037071 GOA
acts upstream of or within positive regulation of cytosolic calcium ion concentration IMP
IMP: Inferred from mutant phenotype
24367707 GOA
involved in positive regulation of endothelial cell migration IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in positive regulation of focal adhesion assembly IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in positive regulation of microtubule binding IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in positive regulation of oxidoreductase activity IDA
IDA: Inferred from direct assay
12893824 GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
15657060 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
24700464 GOA
involved in positive regulation of stress fiber assembly IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in positive regulation of substrate adhesion-dependent cell spreading IMP
IMP: Inferred from mutant phenotype
24863063 GOA
involved in protein autophosphorylation IDA
IDA: Inferred from direct assay
10713049 GOA
involved in protein localization to cytoplasmic microtubule plus-end IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in regulation of Cdc42 protein signal transduction IMP
IMP: Inferred from mutant phenotype
26051942 GOA
involved in regulation of actin cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in regulation of axon extension IMP
IMP: Inferred from mutant phenotype
24520051 GOA
involved in regulation of microtubule polymerization IMP
IMP: Inferred from mutant phenotype
24520051 GOA
acts upstream of or within response to oxidative stress IGI
IGI: Inferred from genetic interaction
17626041 GOA
involved in signal transduction in response to DNA damage IDA
IDA: Inferred from direct assay
9037071 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17515907 GOA
located in cytosol IDA
IDA: Inferred from direct assay
11120811 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
12944467 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9168116 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17888034 GOA
part of protein-containing complex IPI
IPI: Inferred from physical interaction
12384576 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABL1 Protein Structure

SH3_1

SH3_1: SH3 domain (67 - 113)

SH2

SH2: SH2 domain (127 - 202)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (242 - 492)

F_actin_bind

F_actin_bind: F-actin binding (1024 - 1130)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1130 a.a.
Protein Preferred Names Protein Names

tyrosine-protein kinase ABL1

  • ABL protooncogene 1 nonreceptor tyrosine kinase

  • Abelson tyrosine-protein kinase 1

  • BCR-ABL1 p190

  • BCR/ABL e8a2 fusion

  • BCR/ABL1 e1a2 fusion protein

  • bcr/c-abl oncogene protein

  • c-abl oncogene 1, receptor tyrosine kinase

  • proto-oncogene c-Abl

  • proto-oncogene tyrosine-protein kinase ABL1

  • v-abl Abelson murine leukemia viral oncogene homolog 1

ABL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ABL1 P00519 LRRK1 Homo sapiens Q38SD2 24947832
Intra
ABL1 P00519 TLN2 Homo sapiens Q9Y4G6 19234221
Intra
ABL1 P00519 SORBS3 Homo sapiens O60504-2 16831423
Intra
ABL1 P00519 KIT Homo sapiens P10721
FPS
24728074
Intra
ABL1 P00519 PRICKLE3 Homo sapiens O43900 17474147
Intra
ABL1 P00519 SLC22A3 Homo sapiens O75751 17474147
Intra
ABL1 P00519 MUC1 Homo sapiens P15941 16888623
Intra
ABL1 P00519 ERCC6 Homo sapiens Q03468 17626041
Intra
ABL1 P00519 ERCC6 Homo sapiens Q03468 17626041
Intra
ABL1 P00519 ERCC6 Homo sapiens Q03468 17626041
Intra
ABL1 P00519 EGFR Homo sapiens P00533 31980649
Intra
ABL1 P00519 EGFR Homo sapiens P00533 24658140
Intra
ABL1 P00519 SOS2 Homo sapiens Q07890 17474147
Intra
ABL1 P00519 ITGB2 Homo sapiens P05107 19234221
Intra
ABL1 P00519 ITGB2 Homo sapiens P05107 19234221
Intra
ABL1 P00519 MUC1 Homo sapiens P15941-12 16888623
Intra
ABL1 P00519 MUC1 Homo sapiens P15941-12 16888623
Intra
ABL1 P00519 MUC1 Homo sapiens P15941-12 16888623
Intra
ABL1 P00519 YWHAZ Homo sapiens P63104 25852190
Intra
ABL1 P00519 YWHAZ Homo sapiens P63104 15696159
Intra
ABL1 P00519 YWHAE Homo sapiens P62258 25852190
Intra
ABL1 P00519 YWHAE Homo sapiens P62258 36931259
Intra
ABL1 P00519 YWHAE Homo sapiens P62258 15696159
Intra
ABL1 P00519 YWHAG Homo sapiens P61981 25852190
Intra
ABL1 P00519 YWHAG Homo sapiens P61981 30021884
Intra
ABL1 P00519 YWHAG Homo sapiens P61981 15696159
Intra
ABL1 P00519 RIN1 Homo sapiens Q13671 15886098
Intra
ABL1 P00519 RIN1 Homo sapiens Q13671 37219487
Intra
ABL1 P00519 RIN1 Homo sapiens Q13671 9144171
Intra
ABL1 P00519 TP53 Homo sapiens P04637
FPS
39009827
Intra
ABL1 P00519 TP53 Homo sapiens P04637 39009827
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0 18328268
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0 11418237
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0 9593709
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0 17101133
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0 17101133
Intra
ABL1 P00519 ABI1 Homo sapiens Q8IZP0
SPR
18328268
Intra
ABL1 P00519 NCK1 Homo sapiens P16333 17474147
Intra
ABL1 P00519 WASF2 Homo sapiens Q9Y6W5 37219487
Intra
ABL1 P00519 SORBS1 Homo sapiens Q9BX66 11374898
Intra
ABL1 P00519 SHB Homo sapiens Q15464 17112510
Intra
ABL1 P00519 SHB Homo sapiens Q15464 17112510
Intra
ABL1 P00519 SFN Homo sapiens P31947 15696159
Intra
ABL1 P00519 FLNC Homo sapiens Q14315 17474147
Intra
ABL1 P00519 CTNNB1 Homo sapiens P35222 17318191
Intra
ABL1 P00519 ATM Homo sapiens Q13315 11375976
Intra
ABL1 P00519 AR Homo sapiens P10275
FPS
24728074
Intra
ABL1 P00519 MSH5 Homo sapiens O43196
Y2H
19442657
Intra
ABL1 P00519 MSH5 Homo sapiens O43196 19442657
Intra
ABL1 P00519 MSH5 Homo sapiens O43196 22401567
Intra
ABL1 P00519 SRC Homo sapiens P12931 17474147
Intra
ABL1 P00519 SRC Homo sapiens P12931 17318191
Intra
ABL1 P00519 VAV1 Homo sapiens P15498 19234221
Intra
ABL1 P00519 ERBB2 Homo sapiens P04626 16273093
Intra
ABL1 P00519 CDON Homo sapiens Q4KMG0 19470755
Intra
ABL1 P00519 ABI2 Homo sapiens Q9NYB9 17101133
Intra
ABL1 P00519 ABI2 Homo sapiens Q9NYB9 17101133
Intra
ABL1 P00519 TOP1 Homo sapiens P11387 15448168
Intra
ABL1 P00519 CRK Homo sapiens P46108
NMR
12384576
Intra
ABL1 P00519 CRK Homo sapiens P46108 17474147
Intra
ABL1 P00519 CRKL Homo sapiens P46109 22286129
Intra
ABL1 P00519 SNCA Homo sapiens P37840 27348587
Intra
ABL1 P00519 SNCA Homo sapiens P37840 27348587
Intra
ABL1 P00519 SNCA Homo sapiens P37840 27348587
Intra
ABL1 P00519 MAVS Homo sapiens Q7Z434 19914245
Intra
ABL1 P00519 MAVS Homo sapiens Q7Z434 19914245
Intra
ABL1 P00519 MAVS Homo sapiens Q7Z434 19914245
Cross
ABL1 P00519 Cdon Rattus norvegicus O35158
Y2H
19470755
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ABL1 Proteins

Cat. No. Product Name Accession Purity
HY-P71685 ABL1 Protein, Human (GST) P00519-1 (I4-T194) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P77308 ABL1 Protein, Human (Active, sf9, GST) P00519-2 (P137-S554) ≥ 90%, as determined by reducing SDS-PAGE.

ABL1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P85070 ABL1 Antibody (YA4762) WB, IHC-P, ICC/IF, FC Human, Mouse
HY-P86379 ABL1 Antibody (YA6071) WB, IHC-P, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement
  • Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement

  • Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement

Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative
  • Atypical Chronic Myeloid Leukaemia

  • Atypical Chronic Myeloid Leukemia

  • Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

  • Acml

  • Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative

  • Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

  • Atypical Cml

  • Subacute Myeloid Leukemia

  • Subacute Myelogenous Leukaemia

  • Subacute Myeloid Leukaemia

  • Subacute Myelosis

  • Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission

  • Subacute Monocytic Leukaemia Without Mention Of Remission

  • Subacute Monocytic Leukaemia

Moyamoya Angiopathy
Bone Marrow Cancer
  • Malignant Neoplasm Of Bone Marrow

  • Bone Marrow Neoplasm

  • Bone Marrow Tumor

  • Malignant Bone Marrow Tumor

  • Myeloproliferative Disorders

  • Bone Marrow Neoplasms

  • Myeloproliferative Disease

  • Chronic Myeloproliferative Disorder

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Acute Basophilic Leukemia
Hematologic Cancer
  • Hematologic Neoplasm

  • Hematologic Malignancies

  • Hematologic Neoplasms

  • Blood Cancer

  • Hematologic Malignancy

  • Hematological Tumors

  • Hematopoietic And Lymphoid System Tumor

  • Hematopoietic Cancer

  • Hematopoietic Neoplasm

  • Hematopoietic Tumors

  • Malignant Hematopoietic Neoplasm

  • Liquid Tumor

  • Hematopoietic Neoplasms

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Chronic Myelogenous Leukemia, Bcr-Abl1 Positive
  • Chronic Myelogenous Leukemia, Bcr/Abl Positive

  • Chronic Myelosis

  • Chronic Myeloid Leukaemia, Bcr-Abl-Positive Without Mention Of Remission

Myeloid Leukemia
  • Myeloid Leukaemia

  • Leukaemia Myelogenous

  • Leukemia Myelogenous

  • Myeloid Granulocytic Leukaemia

  • Myeloid Granulocytic Leukemia

  • Non-Lymphocytic Leukemia

  • Leukemia, Myeloid

  • Granulocytic Leukaemia

  • Myelogenous Leukaemia

  • Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Cancer Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like
  • B Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like

  • B-All Bcr-Abl1-Like

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Leukemia, Myeloid, Acute

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Acute Leukemia
  • Stem Cell Leukaemia

  • Stem Cell Leukemia

  • Acute Leukemias

  • Acute Undifferentiated Leukemia

  • Undifferentiated Leukemia

  • Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

  • Blast Cell Leukaemia

  • Blast Leukaemia

  • Blastic Leukaemia

  • Undifferentiated Leukaemia

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

  • Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

Megabladder, Congenital
  • MGBL

  • Congenital Megabladder

Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Myelodysplastic/Myeloproliferative Neoplasm
  • Myelodysplastic/Myeloproliferative Disease

  • Myelodysplastic-Myeloproliferative Diseases

  • Myelodysplastic Myeloproliferative Cancer

  • Myelodysplastic Myeloproliferative Disease

  • Myeloproliferative/Myelodysplastic Syndromes

Lip And Oral Cavity Cancer
  • Oral Cancer

  • Lip And Oral Cavity Carcinoma

  • Malignant Neoplasm Of Mouth

Mantle Cell Lymphoma
  • Lymphoma, Mantle Cell

  • Lcm

  • Mcl

  • Mantle Zone Lymphoma

  • Lymphoma Mantle-Cell

  • Lymphoma, Mantle-Cell

  • Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

  • Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

  • Diffuse Small Cleaved-Cell Lymphoma

  • Diffuse Small Cleaved Cell Malignant Lymphoma

  • Small Cleaved Cell Non-Hodgkin Lymphoma

  • Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

  • Malignant Lymphomatous Polyposis

  • Malignant Small Cell, Noncleaved, Diffuse Lymphoma

  • Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

  • Cleaved Cell Lymphoma

  • Small Cell Mantle Cell Lymphoma

  • Small Cleaved Cell Malignant Lymphoma

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart Malformation

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Chronic Eosinophilic Leukemia
  • Pdgfra-Associated Chronic Eosinophilic Leukemia

Polycythemia
  • Erythrocythemia

  • Polycythemia Vera

  • Polycythaemia Due To High Altitude

Ataxia-Telangiectasia
  • Ataxia Telangiectasia

  • Louis-Bar Syndrome

  • AT

  • At1

  • Ataxia-Telangiectasia Syndrome

  • Ataxia - Telangiectasia Variant

  • Boder-Sedgwick Syndrome

  • Louis Bar Syndrome

  • Cerebello-Oculocutaneous Telangiectasia

  • Immunodeficiency With Ataxia Telangiectasia

  • A-T

  • Ataxia Telangiectasia Syndrome

  • Atm

  • Telangiectasia, Cerebello-Oculocutaneous

  • Ataxia-Telangiectasia Variant

Acquired Polycythemia
  • Secondary Polycythemia

  • Polycythemia, Secondary

  • Secondary Erythrocytosis

  • Polycythemia Secondary

Aggressive Systemic Mastocytosis
  • Asm

  • Lymphadenopathic Mastocytosis With Eosinophilia

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Chronic Neutrophilic Leukemia
  • Cnl

  • Leukemia Neutrophilic Chronic

Myeloproliferative Neoplasm
  • Myeloproliferative Disorder

  • Chronic Myeloproliferative Disease

  • Myeloproliferative Neoplasms

  • Chronic Myeloproliferative Disorder

  • Cmpd

  • Cmpd, U

  • Chronic Myeloproliferative Disorders

  • Mpd

  • Mpn

  • Myeloproliferative Disorders

  • Myeloproliferative Disease

  • Campomelic Dysplasia

Stress Polycythemia
  • Gaisbock'S Syndrome

  • Polycythemia, Emotional

  • Pseudopolycythaemia

  • Gaisboeck'S Syndrome

  • Pseudopolycythemia

  • Gaisbock Syndrome

  • Stress Erythrocytosis

  • Pseudo-Polycythemia

  • Relative Erythrocytosis

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Hypotrichosis 13
  • HYPT13

  • Hypotrichosis With Woolly Hair

  • Hypotrichosis, Type 13

Van Den Ende-Gupta Syndrome
  • VDEGS

  • Blepharophimosis, Arachnodactyly, And Congenital Contractures

  • Marden-Walker-Like Syndrome

  • Marden-Walker-Like Syndrome Without Psychomotor Retardation

  • Marden Walker Like Syndrome

  • Marden-Walker-Like Syndrome Without Psychmotor Retardation

  • Van Den Ende Gupta Syndrome

  • Marden Walker Like Syndrome Without Psychomotor Retardation

  • Blepharophimosis Arachnodactyly And Congenital Contractures

Acute Biphenotypic Leukemia
  • Mixed Phenotype Acute Leukemia

  • Acute Leukemia Of Ambiguous Lineage

  • Acute Undifferentiated Leukemia

  • Acute Leukemia Of Indeterminate Lineage

  • Hybrid Acute Leukemia

  • Mixed Lineage Acute Leukemia

  • All With Myeloid Markers

  • Aml With Lymphoid Markers

  • Acute Leukemia Of Undetermined Lineage

  • Bal

  • Biphenotypic Acute Leukemia

  • Undifferentiated Acute Leukemia

  • Mpal

  • Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

  • Leukemia, Biphenotypic, Acute

B-Lymphoblastic Leukemia/Lymphoma With Iamp21
  • B-All With Iamp21

  • Intrachromosomal Amplification Of Chromosome 21

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1
  • B-All With Bcr-Abl1

  • B-Lymphoblastic Leukemia/Lymphoma With T(9

  • 22)(Q34.1

  • Q11.2)

  • Bcr-Abl1

  • B Lymphoblastic Leukemia/Lymphoma With T(9

  • 22)(Q34.1

  • Q11.2)

  • Bcr-Abl1

Lissencephaly
  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Cataract 36
  • CTRCT36

  • Catc4

  • Autosomal Recessive Congenital Cataract 4

  • Cataract, Autosomal Recessive Congenital 4

  • Cataract, Type 36

Lymphoblastic Leukemia, Acute, With Lymphomatous Features
  • LALL

  • Lymphomatous All

  • Leukemia, Acute Lymphoblastic

  • Acute Lymphoblastic Leukemia With Lymphomatous Features

Pectus Excavatum
  • Funnel Chest

  • Congenital Pectus Excavatum

Chronic Myelomonocytic Leukemia
  • Leukemia, Myelomonocytic, Chronic

  • Cmml

  • Leukemia Myelomonocytic Chronic

  • Cmml - [Chronic Myelomonocytic Leukaemia]

  • Chronic Myelomonocytic Leukaemia Without Mention Of Remission

  • Chronic Monocytic Leukaemia

  • Chronic Monocytoid Leukaemia

Leukemia, Chronic Myeloid
  • Chronic Myeloid Leukemia

  • Chronic Myelogenous Leukemia

  • CML

  • Chronic Granulocytic Leukemia

  • Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

  • Chronic Myeloid Leukaemia

  • Chronic Granulocytic Leukaemia

  • Chronic Myelogenous Leukaemia

  • Myeloid Leukemia, Chronic

  • Leukemia, Chronic Myelogenous

  • Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

  • Cml - Chronic Myelogenous Leukemia

  • Cgl

  • Chronic Myelocytic Leukemia

  • Leukemia, Chronic Myeloid, Atypical

  • ACML

  • Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

  • Myeloid Leukemia Chronic

  • Leukemia, Myeloid, Chronic

  • Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

  • Cml- [Chronic Myeloid Leukaemia]

  • Cgl - [Chronic Granulocytic Leukaemia]

  • Chronic Myelocytic Leukaemia

B-Cell Adult Acute Lymphocytic Leukemia
  • Adult B Acute Lymphoblastic Leukemia

  • Adult B Acute Lymphoblastic Leukaemia

  • Adult B-Cell Acute Lymphoblastic Leukaemia

  • Adult B-Cell Acute Lymphoblastic Leukemia

  • Adult B-Cell Lymphocytic Leukaemia

  • Adult B-Cell Lymphocytic Leukemia

  • Adult B-Lymphoblastic Leukaemia

  • Adult B-Lymphoblastic Leukemia

  • B-Cell Adult Acute Lymphocytic Leukaemia

  • B-Cell Adult Acute Lymphoblastic Leukemia

Esophageal Leukoplakia
  • Leukoplakia Of Esophagus

Chronic Leukemia
  • Adult Chronic Leukemia

  • Cll

  • Cml

Leiomyomatosis
B-Lymphoblastic Leukemia/Lymphoma
  • B Lymphoblastic Leukemia/Lymphoma

  • B-All

  • Precursor B Lymphoblastic Lymphoma/Leukemia

  • C-All

  • Lymphoblastic Lymphoma, Nos

  • Common Precursor B All

  • Lymphoblastic B-Cell Lymphoma

  • Pro-B All

  • B-Precursor Lymphoma

  • Lbl - [Lymphoblastic Lymphoma]

Essential Thrombocythemia
  • Essential Thrombocytosis

  • Familial Thrombocytosis

  • Hemorrhagic Thrombocythemia

  • Hereditary Thrombocythemia

  • Primary Thrombocytosis

  • Idiopathic Thrombocythemia

  • Primary Thrombocythemia

  • Thrombocythemia, Essential

  • Essential Thrombocythaemia

  • Et

  • Familial Thrombocythemia

  • Thrombocythemia Essential

Blood Platelet Disease
  • Platelet Disorder

  • Blood Platelet Disorders

  • Thrombocytopathy

  • Platelet Dysfunction

  • Platelet Disorders

  • Qualitative Platelet Deficiency

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Retinoblastoma
  • RB

  • Trilateral Retinoblastoma

  • RB1

  • Retinoblastoma, Trilateral

  • Neuroblastoma Of Retina

  • Rb - Retinoblastoma

  • Eye Cancer, Retinoblastoma

  • Retinal Cancer

  • Retinal Tumor

  • Glioma, Retinal

  • Non-Hereditary Retinoblastoma

  • Childhood Cancer Retinoblastoma

  • Malignant Neoplasm Of Retina

  • Retinal Neoplasms

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Hypereosinophilic Syndrome
  • Eosinophilia

  • HES

  • Eosinophilic Leukocytosis

  • Hypereosinophilic Syndrome, Idiopathic

  • Idiopathic Hypereosinophilic Syndrome

  • Disseminated Eosinophilic Collagen Disease

  • Eosinophilic Disorder

  • Disorders With Increased Eosinophil Counts

Congenital Heart Defects And Skeletal Malformations Syndrome
  • CHDSKM

Gastrointestinal Stromal Tumor
  • GIST

  • Gastrointestinal Stromal Tumors

  • Gastrointestinal Stromal Sarcoma

  • Gastrointestinal Stromal Tumor, Familial

  • Gant

  • Gastrointestinal Stromal Tumour

  • Stromal Tumor Of Gastrointestinal Tract

  • Stromal Tumour Of Gastrointestinal Tract

  • Gastrointestinal Stromal Neoplasm

  • Paraganglioma And Gastric Stromal Sarcoma

  • Plexosarcoma

Central Nervous System Leukemia
  • Leukemia Of The Cns

Myelophthisic Anemia
  • Myelophthisis

  • Anemia Leukoerythroblastic

  • Anemia, Leukoerythroblastic

  • Leukoerythroblastosis

  • Anemia, Myelophthisic

  • Leukoerythroblastic Anemia

Childhood Leukemia
Testicular Leukemia
Adult Acute Lymphocytic Leukemia
  • Adult Acute Lymphoid Leukemia

  • Adult All

T-Cell Acute Lymphoblastic Leukemia
  • T-Cell Leukemia

  • Acute T Cell Leukemia

  • Precursor T Lymphoblastic Leukemia

  • Precursor T-Lymphoblastic Lymphoma/Leukemia

  • T Acute Lymphoblastic Leukemia

  • T-Cell Acute Lymphocytic Leukaemia

  • T-Cell Lymphoblastic Leukemia/Lymphoma

  • Leukemia T-Cell

  • Leukemia, T-Cell

  • Leukemia, Acute, Lymphoblastic, T-Cell

  • Leukemia, T-Cell Acute Lymphoblastic

  • Leukemia, Acute T-Cell

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Precursor T-Cell Lymphoblastic Lymphoma

  • Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Childhood Acute Lymphocytic Leukemia
  • Childhood Acute Lymphoblastic Leukemia

  • Childhood All

  • Pediatric Acute Lymphoblastic Leukemia

  • Lymphoblastic Leukemia Acute Childhood

Acute Myeloid Leukemia With Bcr-Abl1
  • Acute Myeleoid Leukemia With Bcr-Abl1

Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ABL1 VGNC VGNC:69585
Mus musculus ABL1 MGD MGI:87859
Bos taurus ABL1 VGNC VGNC:50224
Felis catus ABL1 VGNC VGNC:68393
Canis familiaris ABL1 VGNC VGNC:54912
Rattus norvegicus ABL1 RGD RGD:1584969
Others ABL1 NCBI