CBL - Cbl proto-oncogene Gene

Also Known as CBL2; NSLL; C-CBL; RNF55; FRA11B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 867

About CBL

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,206,339-119,308,149 (from NCBI)

This gene has 6 transcripts (splice variants), 264 orthologues, 2 paralogues and is associated with 119 phenotypes. Broad expression in testis (RPKM 12.3), lymph node (RPKM 6.0) and 23 other tissues.

Summary

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin Ligase. The encoded protein is one of the Enzymes required for targeting substrates for degradation by the Proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating Enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for Proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

CBL Products (1)

mRNA Protein Name
NM_005188.4 NP_005179.2 E3 ubiquitin-protein ligase CBL
Molecular Function GO Annotation Evidence References Source
enables SH3 domain binding IPI
IPI: Inferred from physical interaction
9447983 GOA
enables ephrin receptor binding IPI
IPI: Inferred from physical interaction
18034775 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
5668240 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
18070883 GOA
involved in negative regulation of epidermal growth factor receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
25178484 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: Inferred from mutant phenotype
17003487 GOA
involved in positive regulation of receptor-mediated endocytosis IMP
IMP: Inferred from mutant phenotype
15465819 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
17974561 GOA
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
17094949 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
25178484 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
29237719 GOA
located in cilium IDA
IDA: Inferred from direct assay
29237719 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15465819 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

CBL Protein Structure

Cbl_N

Cbl_N: CBL proto-oncogene N-terminal domain 1 (48 - 176)

Cbl_N2

Cbl_N2: CBL proto-oncogene N-terminus, EF hand-like domain (178 - 262)

Cbl_N3

Cbl_N3: CBL proto-oncogene N-terminus, SH2-like domain (264 - 349)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (380 - 424)

UBA

UBA: UBA/TS-N domain (861 - 892)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 906 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase CBL

  • Cas-Br-M (murine) ecotropic retroviral transforming sequence

CBL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CBL P22681 NTRK1 Homo sapiens P04629 21570973
Intra
CBL P22681 MET Homo sapiens P08581 11894096
Intra
CBL P22681 MET Homo sapiens P08581
PLA
25241761
Intra
CBL P22681 MET Homo sapiens P08581
ITC
18273061
Intra
CBL P22681 MET Homo sapiens P08581 21163258
Intra
CBL P22681 MET Homo sapiens P08581 18273061
Intra
CBL P22681 MET Homo sapiens P08581
SPR
21163258
Intra
CBL P22681 ZAP70 Homo sapiens P43403
SPR
22266821
Intra
CBL P22681 ZAP70 Homo sapiens P43403 22266821
Intra
CBL P22681 MAPK8 Homo sapiens P45983 16982329
Intra
CBL P22681 EGFR Homo sapiens P00533 23799367
Intra
CBL P22681 EGFR Homo sapiens P00533
IF
16914641
Intra
CBL P22681 EGFR Homo sapiens P00533
ITC
18273061
Intra
CBL P22681 EGFR Homo sapiens P00533 15962011
Intra
CBL P22681 EGFR Homo sapiens P00533 18273061
Intra
CBL P22681 EGFR Homo sapiens P00533 7657591
Intra
CBL P22681 EGFR Homo sapiens P00533 23799367
Intra
CBL P22681 EGFR Homo sapiens P00533 20562913
Intra
CBL P22681 EGFR Homo sapiens P00533 8662998
Intra
CBL P22681 CD2AP Homo sapiens Q9Y5K6 17020880
Intra
CBL P22681 CD2AP Homo sapiens Q9Y5K6 11067845
Intra
CBL P22681 CD2AP Homo sapiens Q9Y5K6 11067845
Intra
CBL P22681 CD2AP Homo sapiens Q9Y5K6 17020880
Intra
CBL P22681 CD2AP Homo sapiens Q9Y5K6 25036637
Intra
CBL P22681 YWHAH Homo sapiens Q04917 25036637
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97
Y2H
10679202
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 16407834
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 11894095
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 10679202
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 12177062
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 11894095
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97
ITC
19268472
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 10679202
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 11894095
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 15962011
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 14596919
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97
Y2H
11894095
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 25036637
Intra
CBL P22681 SH3KBP1 Homo sapiens Q96B97 20711168
Intra
CBL P22681 PIK3R2 Homo sapiens O00459
TAP
19380743
Intra
CBL P22681 YWHAZ Homo sapiens P63104 11697890
Intra
CBL P22681 UBE2D2 Homo sapiens P62837
SPR
22266821
Intra
CBL P22681 UBE2D2 Homo sapiens P62837 22266821
Intra
CBL P22681 SPRY4 Homo sapiens Q9C004 18273061
Intra
CBL P22681 SPRY4 Homo sapiens Q9C004
ITC
18273061
Intra
CBL P22681 SPRY4 Homo sapiens Q9C004 18273061
Intra
CBL P22681 YWHAE Homo sapiens P62258 25036637
Intra
CBL P22681 YWHAE Homo sapiens P62258 36931259
Intra
CBL P22681 YWHAE Homo sapiens P62258 11697890
Intra
CBL P22681 YWHAB Homo sapiens P31946 11157475
Intra
CBL P22681 YWHAG Homo sapiens P61981 11697890
Intra
CBL P22681 YWHAQ Homo sapiens P27348 15094368
Intra
CBL P22681 YWHAQ Homo sapiens P27348 9092538
Intra
CBL P22681 GRB2 Homo sapiens P62993 23799367
Intra
CBL P22681 GRB2 Homo sapiens P62993 25036637
Intra
CBL P22681 GRB2 Homo sapiens P62993 25814554
Intra
CBL P22681 GRB2 Homo sapiens P62993
TAP
19380743
Intra
CBL P22681 GRB2 Homo sapiens P62993 15677445
Intra
CBL P22681 F2RL1 Homo sapiens P55085 15708858
Intra
CBL P22681 HTT Homo sapiens P42858 32814053
Intra
CBL P22681 HTT Homo sapiens P42858 32814053
Intra
CBL P22681 HTT Homo sapiens P42858 32814053
Intra
CBL P22681 SFN Homo sapiens P31947 11697890
Intra
CBL P22681 ITSN1 Homo sapiens Q15811 16914641
Intra
CBL P22681 ITSN1 Homo sapiens Q15811
IF
16914641
Intra
CBL P22681 ITSN1 Homo sapiens Q15811 16914641
Intra
CBL P22681 ITSN1 Homo sapiens Q15811 16914641
Intra
CBL P22681 SRC Homo sapiens P12931 16636290
Intra
CBL P22681 SRC Homo sapiens P12931 17094785
Intra
CBL P22681 SRC Homo sapiens P12931 17094785
Intra
CBL P22681 ARHGEF7 Homo sapiens Q14155 16407834
Intra
CBL P22681 SPRY2 Homo sapiens O43597 18273061
Intra
CBL P22681 SPRY2 Homo sapiens O43597 18273061
Intra
CBL P22681 SPRY2 Homo sapiens O43597 16893902
Intra
CBL P22681 SPRY2 Homo sapiens O43597 12815057
Intra
CBL P22681 SPRY2 Homo sapiens O43597 15962011
Intra
CBL P22681 SH2B2 Homo sapiens O14492 15737992
Intra
CBL P22681 SH2B2 Homo sapiens O14492 18273061
Intra
CBL P22681 SYK Homo sapiens P43405 18273061
Intra
CBL P22681 SYK Homo sapiens P43405 15556646
Intra
CBL P22681 SYK Homo sapiens P43405 8621719
Intra
CBL P22681 SYK Homo sapiens P43405
ITC
18273061
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 16219545
Intra
CBL P22681 PIK3R1 Homo sapiens P27986
TAP
19380743
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 16982329
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 9890970
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 15556646
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 7642581
Intra
CBL P22681 PIK3R1 Homo sapiens P27986
Y2H
9160881
Intra
CBL P22681 PIK3R1 Homo sapiens P27986 8621719
Intra
CBL P22681 PIK3R3 Homo sapiens Q92569 25814554
Intra
CBL P22681 CRK Homo sapiens P46108
TAP
19380743
Intra
CBL P22681 CRK Homo sapiens P46108 25814554
Intra
CBL P22681 CRK Homo sapiens P46108 8524328
Intra
CBL P22681 CRKL Homo sapiens P46109 15556646
Intra
CBL P22681 CRKL Homo sapiens P46109 15556646
Intra
CBL P22681 CRKL Homo sapiens P46109 8626543
Intra
CBL P22681 ATXN1 Homo sapiens P54253 32814053
Intra
CBL P22681 ATXN1 Homo sapiens P54253 32814053
Intra
CBL P22681 ATXN1 Homo sapiens P54253 32814053
Intra
CBL P22681 HCK Homo sapiens P08631-2 10092522
Cross
CBL P22681 PLCG1 Sus scrofa F1SDV6 17372230
Cross
CBL P22681 lpqN Mycobacterium tuberculosis A0A0H3L6J6 30118682
Cross: Cross-species interaction Intra: Intraspecies interaction

CBL Antibodies

Cat. No. Product Name Application Reactivity
HY-P81294 Phospho-CBL (Tyr774) Antibody (YA1014) WB, IP Human, Rat
HY-P81294A Phospho-CBL (Ser669) Antibody (YA1015) WB Human
HY-P81294AA Phospho-CBL (Ser669) Antibody (YA1015)(PBS only) WB Human
HY-P82647 CBL Antibody (YA2392) WB, ICC/IF, IP Human
HY-P82647A CBL Antibody (YA2392)(PBS only) WB, ICC/IF, IP Human
HY-P84192 CBL Antibody (YA3889) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Monkey, Rabbit
HY-P84192A CBL Antibody (YA3889)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Monkey, Rabbit
HY-P85077 Cbl Antibody (YA4769) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
  • NSLL

  • Cbl Syndrome

  • Noonan Syndrome-Like Disorder With Juvenile Myelomonocytic Leukemia

  • Cbl Mutation-Associated Syndrome

  • Noonan Syndrome-Like Disorder With Jmml

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

Fragile Site 11b
  • FRA11B

Pseudo-Turner Syndrome
  • Noonan Syndrome

Noonan Syndrome And Noonan-Related Syndrome
Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Rhabdomyosarcoma
Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Aggressive Systemic Mastocytosis
  • Asm

  • Lymphadenopathic Mastocytosis With Eosinophilia

Ovarian Germ Cell Cancer
  • Ovarian Germ Cell Tumor

  • Malignant Germ Cell Tumor Of Ovary

  • Germ Cell Neoplasm Of Ovary

  • Germ Cell Tumor Of Ovary

  • Mogct

  • Malignant Ovarian Germ Cell Tumor

  • Malignant Ovarian Germ Cell Neoplasm

Jacobsen Syndrome
  • Chromosome 11q Deletion Syndrome

  • Partial 11q Monosomy Syndrome

  • Jacobsen Distal 11q Deletion Syndrome

  • JBS

  • 11q Partial Monosomy Syndrome

  • Chromosome 11q Deletion

  • 11q Deletion

  • 11q Monosomy

  • Deletion 11q

  • Monosomy 11q

  • Partial Monosomy 11q

  • 11q Deletion Disorder

  • 11q Deletion Syndrome

  • 11q Terminal Deletion Disorder

  • 11q- Deletion Syndrome

  • 11q23 Deletion Disorder

  • Jacobsen Thrombocytopenia

  • 11q Terminal Deletion Syndrome

  • Del(11)(Q23.3)

  • Del(11)(Qter)

  • Distal Deletion 11q

  • Distal Monosomy 11q

  • Monosomy 11qter

  • Telomeric Deletion 11q

  • Paris-Trousseau Thrombocytopenia

Hematologic Cancer
  • Hematologic Neoplasm

  • Hematologic Neoplasms

  • Hematologic Malignancies

  • Blood Cancer

  • Hematologic Malignancy

  • Hematological Tumors

  • Hematopoietic And Lymphoid System Tumor

  • Hematopoietic Cancer

  • Hematopoietic Neoplasm

  • Hematopoietic Tumors

  • Malignant Hematopoietic Neoplasm

  • Liquid Tumor

  • Hematopoietic Neoplasms

Thanatophoric Dysplasia, Type I
  • Thanatophoric Dysplasia

  • Thanatophoric Dwarfism

  • Thanatophoric Dysplasia Type 1

  • TD1

  • Td

  • Thanatophoric Short Stature

  • Thanatophoric Dwarfism Type 1

  • Thanatophoric Dysplasia Type I

  • Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

  • Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

  • Skeletal Dysplasia, San Diego Type

  • Plsd San Diego Type

  • Thanatophoric Dwarfism 1

  • Dwarfism Thanatophoric

  • Dwarf, Thanatophoric

  • Thanatophoric Dysplasia 1

  • Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

  • Platyspondylic Lethal Skeletal Dysplasia San Diego Type

  • Thanatophoric Dwarf

  • Thanatophoric Dwarfism Or Short Stature

  • Thanatophoric Dwarfism Syndrome

  • Td - [Thanatophoric Dwarfism]

Saethre-Chotzen Syndrome
  • SCS

  • Acs3

  • Acs Iii

  • Chotzen Syndrome

  • Acrocephaly, Skull Asymmetry, And Mild Syndactyly

  • Acrocephalosyndactyly Type 3

  • Acrocephalosyndactyly, Type Iii

  • Acrocephalosyndactyly Type Iii

  • Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

  • Auralcephalosyndactyly

  • Acs 3

  • Acrocephalo-Syndactyly, Type 3

  • Blepharophimosis,Epicanthus Inversus, And Ptosis 3

  • Aural Cephalosyndactyly

  • Kurczynski-Casperson Syndrome

  • Acrocephalosyndactyly Iii

  • Dysostosis Craniofacialis With Hypertelorism

  • Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

  • Sakati Syndrome

Systemic Mastocytosis
  • Systemic Mast Cell Disease

  • Systemic Tissue Mast Cell Disease

  • Mastocytosis, Systemic

  • Smcd - Systemic Mast Cell Disease

  • Smcd

  • Mast Cell Disease, Systemic

  • Systemic Mast-Cell Disease

  • Systemic Mastocytoses

  • Mastocytosis Systemic

  • Corneal Dystrophy, Subepithelial Mucinous

  • Smcd - [Systemic Mast Cell Disease]

Lymphoma
  • Lymphoid Cancer

  • Lymphomas

  • Lymphoid Cancers

  • Lymphoid Neoplasm

  • Lymphoma Nos

  • Nhl - [Non-Hodgkin Lymphoma]

  • Non-Hodgkin Lymphoma

  • Non-Hodgkin Lymphoma, Nos

  • Non-Hodgkin Malignant Lymphoma Nos

Wiskott-Aldrich Syndrome
  • WAS

  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome

  • Immunodeficiency 2

  • Aldrich Syndrome

  • Imd2

  • Wiskott-Aldrich Syndrome 1

  • Was1

  • Wiskott Syndrome

  • Wiskott Aldrich Syndrome

  • Eczema Thrombocytopenia Immunodeficiency Syndrome

  • Imd 2

Vitamin B12 Deficiency
  • Cobalamin Deficiency

  • Hypocobalaminemia

  • Vitamin B 12 Deficiency

  • Cyanocobalamin Deficiency

  • Deficiency Of Vitamin B12

Vitamin Metabolic Disorder
Brill-Zinsser Disease
  • Recrudescent Typhus

  • Brill Disease

  • Brill Zinsser Disease

  • Brill'S Disease

  • Latent Typhus

  • Sporadic Typhus

  • Typhus, Epidemic Louse-Borne

  • Recrudescent Typhus Due To Rickettsia Prowazekii

  • Recrudescent Typhus Fever

  • Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii

  • Recrudescent Brill Disease

  • Recrudescent Typhus Fever Due To Rickettsia Prowazekii

Pernicious Anemia
  • Anemia, Pernicious

  • Anemia Pernicious

  • Pernicious Anaemia

  • Addison'S Anaemia

  • Biermer'S Anaemia

  • Biermer'S Anemia

  • Acquired Pernicious Anemia

  • Addison-Biermer Anemia

  • Addisonian Anemia

  • Biermer Anemia

  • Biermer'S Disease

  • Juvenile Onset Pernicious Anemia

  • Biermer Disease

  • Biermer-Addison Disease

Megaloblastic Anemia
  • Imerslund-Grasbeck Syndrome

  • Igs

  • Defect Of Enterocyte Intrinsic Factor Receptor

  • Enterocyte Cobalamin Malabsorption

  • Familial Megaloblastic Anemia

  • Megaloblastic Anemia 1

  • Selective Cobalamin Malabsorption With Proteinuria

  • Imerslund-Gräsbeck Syndrome

  • Anemia, Megaloblastic

  • Grasbeck-Imerslund Syndrome

  • Megaloblastic Anaemia

  • Mga1 Norwegian Type

  • Recessive Hereditary Megaloblastic Anaemia 1

  • Recessive Hereditary Megaloblastic Anemia 1

  • Rh-Mga1

  • Gräsbeck-Imerslund Disease

  • Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

  • Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

  • Anemia Megaloblastic

  • Megaloblastic Anemia Due To Inborn Errors Of Metabolism

  • 3-@Methylglutaconic Aciduria, Type I

Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

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

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Myelodysplastic/Myeloproliferative Neoplasm
  • Myelodysplastic-Myeloproliferative Diseases

  • Myelodysplastic/Myeloproliferative Disease

  • Myelodysplastic Myeloproliferative Cancer

  • Myelodysplastic Myeloproliferative Disease

  • Myeloproliferative/Myelodysplastic Syndromes

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Methylmalonic Aciduria And Homocystinuria, Cbld Type
  • Homocystinuria, Cbld Type, Variant 1

  • Methylmalonic Aciduria And Homocystinuria Type Cbld

  • Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

  • MAHCD

  • Methylmalonic Acidemia And Homocystinuria, Cbld Type

  • Methylmalonic Aciduria, Cblh Type, Formerly

  • Methylmalonic Acidemia, Cblh Type, Formerly

  • Methylmalonic Aciduria, Cbld Type, Variant 2

  • Cobalamin D Deficiency

  • Methylcobalamin Deficiency Type Cbldv1

  • Functional Methionine Synthase Deficiency Type Cbldv1

  • Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

  • Methylmalonic Acidemia With Homocystinuria, Type Cbld

  • Cbld Defect

  • Cobalamin D Defect

  • Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

  • Methylmalonic Aciduria With Homocystinuria, Type Cbld

  • Homocystinuria Cbld Variant 1

  • Methylmalonic Acidemia And Homocystinuria Cbld Type

  • Methylmalonic Aciduria And Homocystinuria Cbld-Combined

  • Methylmalonic Aciduria And Homocystinuria Cbld Original

  • Methylmalonic Aciduria Cbld Variant 2

  • Aciduria, Methylmalonic, And Homocystinuria, Cbld Type

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • 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

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

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
Mus musculus CBL MGD MGI:88279
Macaca mulatta CBL VGNC VGNC:70554
Rattus norvegicus CBL RGD RGD:1561386
Canis familiaris CBL VGNC VGNC:38758
Felis catus CBL VGNC VGNC:108361
Bos taurus CBL VGNC VGNC:26808
Others CBL NCBI