BTK - Bruton tyrosine kinase Gene

Also Known as AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 695

About BTK

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,349,450-101,390,796 (from NCBI)

This gene has 31 transcripts (splice variants), 206 orthologues, 32 paralogues and is associated with 78 phenotypes. Biased expression in lymph node (RPKM 25.2), spleen (RPKM 18.4) and 13 other tissues.

Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

BTK Products (3)

mRNA Protein Name
NM_000061.3 NP_000052.1 tyrosine-protein kinase BTK isoform 1
NM_001287345.2 NP_001274274.1 tyrosine-protein kinase BTK isoform 2
NM_001287344.2 NP_001274273.1 tyrosine-protein kinase BTK isoform 3
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
11577348 GOA
enables non-membrane spanning protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
11606584 GOA
enables non-membrane spanning protein tyrosine kinase activity IGI
IGI: Inferred from genetic interaction
14656219 GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
IDA: Inferred from direct assay
17823121 GOA
enables phospholipase activator activity IDA
IDA: Inferred from direct assay
11606584 GOA
enables phospholipase binding IPI
IPI: Inferred from physical interaction
11606584 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8892607 GOA
enables protein tyrosine kinase activity EXP
EXP: Inferred from Experiment
7518558 GOA
enables protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
34554188 GOA
Biological Process GO Annotation Evidence References Source
involved in B cell receptor signaling pathway IDA
IDA: Inferred from direct assay
15509800 GOA
involved in intracellular signal transduction IDA
IDA: Inferred from direct assay
11606584 GOA
involved in intracellular signal transduction IGI
IGI: Inferred from genetic interaction
14656219 GOA
involved in peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
11606584 GOA
involved in peptidyl-tyrosine phosphorylation IGI
IGI: Inferred from genetic interaction
14656219 GOA
involved in positive regulation of NLRP3 inflammasome complex assembly IDA
IDA: Inferred from direct assay
34554188 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
17823121 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
15046600 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17823121 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

BTK Protein Structure

PH

PH: PH domain (5 - 132)

BTK

BTK: BTK motif (140 - 169)

SH3_1

SH3_1: SH3 domain (220 - 266)

SH2

SH2: SH2 domain (281 - 362)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (402 - 650)

  • 0
  • 200
  • 400
  • 600
  • 659 a.a.
Protein Preferred Names Protein Names

tyrosine-protein kinase BTK

  • B-cell progenitor kinase

  • Bruton agammaglobulinemia tyrosine kinase

  • Bruton's tyrosine kinase

  • agammaglobulinaemia tyrosine kinase

  • dominant-negative kinase-deficient Brutons tyrosine kinase

BTK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BTK Q06187 BLNK Homo sapiens Q8WV28
NMR
16969585
Intra
BTK Q06187 WAS Homo sapiens P42768 8892607
Intra
BTK Q06187 HSP90AB1 Homo sapiens P08238 33961781
Intra
BTK Q06187 GTF2I Homo sapiens P78347 9012831
Intra
BTK Q06187 GTF2I Homo sapiens P78347 9012831
Intra
BTK Q06187 GTF2I Homo sapiens P78347 19214191
Intra
BTK Q06187 GTF2I Homo sapiens P78347 9012831
Intra
BTK Q06187 GTF2I Homo sapiens P78347 9012831
Intra
BTK Q06187 PRKCQ Homo sapiens Q04759 11788586
Intra
BTK Q06187 PRKCQ Homo sapiens Q04759 11788586
Intra
BTK Q06187 MAL Homo sapiens P21145 22366891
Intra
BTK Q06187 MAL Homo sapiens P21145 22366891
Intra
BTK Q06187 MAL Homo sapiens P21145 22366891
Intra
BTK Q06187 ARID3A Homo sapiens Q99856 19214191
Intra
BTK Q06187 BTK Homo sapiens Q06187 11231015
Intra
BTK Q06187 ANKRD54 Homo sapiens Q6NXT1 32707033
Intra
BTK Q06187 ebi-1521221 Homo sapiens EBI-1521221
Y2H
11577348
Intra
BTK Q06187 ANKRD54 Homo sapiens Q6NXT1 33961781
Intra
BTK Q06187 ANKRD54 Homo sapiens Q6NXT1 28514442
Intra
BTK Q06187 BTK Homo sapiens Q06187 11577348
Intra
BTK Q06187 SH3BP5 Homo sapiens O60239 9571151
Intra
BTK Q06187 SH3BP5 Homo sapiens O60239 9571151
Intra
BTK Q06187 MEOX2 Homo sapiens P50222 25910212
Intra
BTK Q06187 MEOX2 Homo sapiens P50222 25910212
Intra
BTK Q06187 MEOX2 Homo sapiens P50222 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

BTK Antibodies

Cat. No. Product Name Application Reactivity
HY-P80454 Phospho-BTK(Y223) Antibody (YA221) WB, IP Human
HY-P80576 BTK Antibody (YA816) WB, IP Human
HY-P80576A BTK Antibody (YA816)(PBS only) WB, IP Human
HY-P84493 BTK Antibody (YA4190) WB, IHC-P, ICC/IF, ELISA Human, Monkey
HY-P84493A BTK Antibody (YA4190)(PBS only) WB, IHC-P, ICC/IF, ELISA Human, Monkey
HY-P86215 BTK Antibody (YA5907) WB, IHC-P, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
Marginal Zone B-Cell Lymphoma
  • Marginal Zone Lymphoma

  • Mzl

  • Mucosa-Associated Lymphoid Tissue Lymphoma

Waldenstroem'S Macroglobulinemia
  • Waldenstrom Macroglobulinemia

  • Macroglobulinemia Of Waldenstrom

  • Lymphoplasmacytic Lymphoma With Igm Gammopathy

  • Lymphoplasmacytic Lymphoma

  • Waldenstrom'S Macroglobulinaemia

  • Waldenstrom'S Syndrome

  • Waldenström Macroglobulinemia

  • Waldenstrom'S Macroglobulinemia

  • Wm

  • Waldenström'S Macroglobulinemia

  • Malignant Lymphoma - Lymphoplasmacytic

Cd40 Ligand Deficiency
  • X-Linked Hyper Igm Syndrome

  • Hyperimmunoglobulin M Syndrome

  • Higm1

  • Hyper-Igm Syndrome Type 1

  • X-Linked Hyper-Igm Syndrome

  • Xhigm

  • Higmx-1

  • X-Linked Hyper-Igm Immunodeficiency

  • Hyper-Igm Syndrome 1

  • Immunodeficiency With Hyper-Igm, Type 1

  • Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

  • Hyper-Igm Syndrome Due To Cd40l Deficiency

  • Hyper-Igm Immunodeficiency Syndrome

  • Hyper-Igm Immunodeficiency Syndrome, Type 1

X-Linked Recessive Disease
Transient Hypogammaglobulinemia Of Infancy
  • Immunoglobulin Maturational Delay

  • Thi - [Transient Hypogammaglobulinaemia Of Infancy]

Immunodeficiency 7
  • Tcr-Alpha-Beta-Positive T-Cell Deficiency

  • IMD7

  • T-Cell Receptor-Alpha/Beta Deficiency

  • Immunodeficiency 7, Tcr-Alpha/Beta Deficient

  • Tcr-Alpha/Beta Deficiency

  • Tcr-Alpha-Beta+ T-Cell Deficiency

  • T-Cell Receptor Alpha/Beta Deficiency

Isolated Growth Hormone Deficiency Type Iii
  • Congenital Ighd Type Iii

  • Congenital Isolated Gh Deficiency Type Iii

  • Congenital Isolated Growth Hormone Deficiency Type Iii

  • Fleisher Syndrome

  • Growth Hormone Deficiency With Hypogammaglobulinemia

  • Ighd Iii

  • X-Linked Ighd

  • X-Linked Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 3

  • X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency

  • X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency

  • Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

  • Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

  • Ighd3

  • Growth Hormone Deficiency, Isolated, Type Iii )

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Selective Immunoglobulin Deficiency Disease
X-Linked Monogenic Disease
Agammaglobulinemia 1, Autosomal Recessive
  • AGM1

  • Agammaglobulinemia 1

  • Autosomal Recessive Agammaglobulinemia 1

  • Agammaglobulinemia, Autosomal Recessive, Due To Ighm Defect

  • Agammaglobulinemia Autosomal Recessive Due To Ighm Defect

  • Agammaglobulinemia, Type 1, Autosomal Recessive )

Congenital Hypogammaglobulinemia
  • Congenital Hypogammaglobulinaemia

Bn2 Diffuse Large B-Cell Lymphoma
  • Bn2 Dlbcl

  • Doid:0081064

Agammaglobulinemia
  • Hypogammaglobulinemia

  • Ighm

  • Mu Heavy Chain Deficiency

  • Mu-Heavy Chain Disease

  • Mu-Hcd

  • Mu-Chain Disease

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Immunodeficiency 45
  • IMD45

Macroglobulinemia
  • Primary Macroglobulinemia

  • Waldenstrom Macroglobulinemia

Omenn Syndrome
  • Histiocytic Medullary Reticulosis

  • Severe Combined Immunodeficiency With Hypereosinophilia

  • Combined Immunodeficiency With Hypereosinophilia

  • Reticuloendotheliosis, Familial, With Eosinophilia

  • Reticuloendotheliosis Familial With Eosinophilia

  • Familial Reticuloendotheliosis

  • Omenn'S Syndrome

  • OS

  • Malignant Histiocytosis

Pneumocystosis
  • Pneumocystis Jirovecii Pneumonia

  • Pneumocystis Carinii Pneumonia

  • Pneumocystis Pneumonia

  • Pulmonary Pneumocystosis

  • PCP

  • Pneumocystosis Pneumonia

  • Pneumonia Pneumocystis Carinii

  • Pneumonia, Pneumocystis

  • Pneumocystis Jiroveci Pneumonia

Lymphopenia
  • Lymphocytopenia

Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

B Cell Deficiency
  • Immunoglobulin Heavy Chain Deficiency

  • B Cell Deficiencies

  • Immunoglobulin Heavy Chain Deletion

  • Humoral Immune Defect

Central Nervous System Hematologic Cancer
  • Cns Hematopoietic Tumor

  • Hematopoietic Neoplasm Of Central Nervous System

  • Central Nervous System Hematopoietic Neoplasm

Common Variable Immunodeficiency
  • Cvid

  • Common Variable Agammaglobulinemia

  • Acquired Hypogammaglobulinemia

  • Common Variable Immune Deficiency

  • Hypogamma-Globulinemia, Acquired

  • Idiopathic Immunoglobulin Deficiency

  • Primary Antibody Deficiency

  • Primary Hypogammaglobulinemia

  • Acquired Agammaglobulinemia

  • Sporadic Hypogammaglobulinemia

  • Common Variable Hypogamma-Globulinemia

  • Immunoglobulin Deficiency, Late-Onset

  • Common Variable Hypogammaglobulinemia

  • Immunodeficiency, Common Variable

Lymphoma, Non-Hodgkin, Familial
  • Non-Hodgkin Lymphoma

  • Lymphoma, Non-Hodgkin

  • NHL

  • Lymphoma, Non-Hodgkin, Somatic

  • Lymphoma, Follicular, Somatic

  • Familial Non-Hodgkin Lymphoma

  • Lymphoma Non-Hodgkins

  • Follicular Lymphoma, Somatic

  • Lymphosarcoma

  • Non-Hodgkins Lymphoma

Tibial Nerve Palsy
Immunodeficiency With Hyper-Igm, Type 1
  • Immunodeficiency, X-Linked, With Hyper-Igm

  • Hyper Igm Syndrome

  • HIGM1

  • Xhim

  • Hyper-Igm Syndrome

  • Higm

  • Hyper-Igm Syndrome 1

  • Immunodeficiency 3

  • Imd3

  • Immunodeficiency With Hyper-Igm

  • Immunodeficiency With Hyper Igm Type 1

  • Ihis

  • X-Linked Hyper Igm Syndrome

  • Hyper-Igm Immunodeficiency, X-Linked

  • Hyper Igm Immunodeficiency, X-Linked

  • Hyper Igm Syndrome 1

  • X-Linked Immunodeficiency With Hyper-Igm 1

  • Immunodeficiency, With Hyper Igm

  • Immunodeficiency, With Hyper Igm, Type 1

  • Hyper-Igm Immunodeficiency Syndrome, Type 1

  • Hyperimmunoglobulin M Syndrome

Testicular Lymphoma
  • Malignant Lymphoma Of Testis

  • Lymphoma Of The Testis

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

Refractory Plasma Cell Neoplasm
Lambda 5 Deficiency
Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

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

Transient Hypogammaglobulinemia
Immunodeficiency 46
  • Tfrc-Related Combined Immunodeficiency

  • IMD46

  • Cid Due To Tfrc Deficiency

  • Combined Immunodeficiency Due To Tfrc Deficiency

Hairy Cell Leukemia
  • Hcl-V

  • Hairy Cell Leukemia Variant

  • Hairy Cell Leukaemia Variant

  • Hcl

  • Leukemic Reticuloendotheliosis

  • Leukemic Reticuloendotheliosis Variant

  • Prolymphocytic Variant Of Hcl

  • Prolymphocytic Variant Of Hairy Cell Leukemia

  • Leukemia Hairy Cell

  • Leukemia, Hairy Cell

  • Leukaemic Reticuloendotheliosis

  • Lre - [Leukemic Reticuloendotheliosis]

  • Hairy-Cell Leukaemia, Nos

  • Hcl - [Hairy Cell Leukaemia]

  • Hairy-Cell Leukaemia Without Mention Of Remission

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency Disease

  • Primary Immunodeficiency

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Plasma Protein Metabolism Disease
Anemia, Autoimmune Hemolytic
  • Autoimmune Hemolytic Anemia

  • Idiopathic Autoimmune Hemolytic Anemia

  • Immuno-Hemolytic Anemia

  • Anemia, Hemolytic, Autoimmune

  • Autoimmune Haemolytic Anaemia

  • Autoimmune Hemolytic Anaemia

  • Acquired Autoimmune Hemolytic Anemia

  • Anemia Hemolytic Autoimmune

  • Familial Auto-Immune Hemolytic Anemia

  • Aha

  • Aiha

Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
  • IGHD3

  • Ighd Iii

  • Fleisher Syndrome

  • Growth Hormone Deficiency With Hypogammaglobulinemia, X-Linked

  • Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

  • Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

  • Short Stature Due To Isolated Growth Hormone Deficiency With X-Linked Hypogammaglobulinemia

  • Growth Hormone Deficiency, Isolated, 3, With Agammaglobulinemia

  • Agammaglobulinemia And Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 3

  • X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency

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

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Bacterial Infectious Disease
  • Bacterial Infections

  • Bacterial Infection Nos

  • Disease Caused By Bacteria

  • Bacterial Disease Or Disorder

Ecthyma
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

Aneurysm, Intracranial Berry, 12
  • ANIB12

  • Intracranial Berry Aneurysm 12

N1 Diffuse Large B-Cell Lymphoma
  • N1 Dlbcl

  • Doid:0081067

Paralytic Poliomyelitis
  • Poliomyelitis, Paralytic

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

Mcd Diffuse Large B-Cell Lymphoma
  • Mcd Dlbcl

  • Doid:0081066

Mohr-Tranebjaerg Syndrome
  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Jensen Syndrome

  • Deafness Dystonia Syndrome

  • MTS

  • Dds

  • Deafness-Dystonia-Optic Atrophy Syndrome

  • Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

  • Opticoacoustic Nerve Atrophy With Dementia

  • Dystonia-Deafness Syndrome

  • Ddp

  • Ddon Syndrome

  • Mohr-Tranebjærg Syndrome

  • Deafness Dystonia Optic Atrophy Syndrome

  • Deafness Dystonia Optic Neuronopathy Syndrome

  • Dystonia Deafness Syndrome

  • Ddon

  • Deafness - Dystonia - Optic Neuronopathy Syndrome

  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

  • Dfn-1

  • X-Linked Progressive Deafness Type 1

Panniculitis
  • Nodular Panniculitis

Agammaglobulinemia, X-Linked
  • X-Linked Agammaglobulinemia

  • XLA

  • Bruton Type Agammaglobulinemia

  • Bruton'S Agammaglobulinemia

  • Bruton-Type Agammaglobulinemia

  • Agmx1

  • Imd1

  • Agammaglobulinemia, X-Linked 1

  • Btk-Deficiency

  • Agammaglobulinemia

  • Hypogammaglobulinemia

  • Agammaglobulinemia, X-Linked, Type 1

  • Immunodeficiency 1

  • Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

  • Bruton'S Agammaglobulinaemia

  • Bruton'S Sex-Linked Agammaglobulinemia

  • Bruton'S Type Agammaglobulinemia

  • Btk Deficiency

  • Agammaglobulinemia, Btk

  • Agammaglobulinemia, Bruton Tyrosine Kinase

  • Congenital Agammaglobulinemia

  • Immunodeficiency Type 1

  • X-Linked Agammaglobulinemia Type 1

Mast-Cell Leukemia
  • Mast Cell Leukemia

  • Leukemia, Mast-Cell

  • Leukemia Mast Cell

  • Mast Cell Leukaemia Nos

  • Mast Cell Leukaemia Without Mention Of Remission

Chronic Granulomatous Disease
  • Cgd

  • Granulomatous Disease, Chronic

  • Autosomal Recessive Chronic Granulomatous Disease

  • X-Linked Chronic Granulomatous Disease

  • Bridges-Good Syndrome

  • Congenital Dysphagocytosis

  • Quie Syndrome

  • Chronic Septic Granulomatosis

  • Chronic Granulomatous Disorder

  • Granulomatous Disease Chronic

  • Granulomatous Disease, Chronic, X-Linked

Lymphoplasmacytic Lymphoma
  • Waldenstrom Macroglobulinemia

  • Malignant Lymphoma - Lymphoplasmacytic

  • Waldenström Macroglobulinaemia

  • Waldenström Macroglobulinaemia Without Mention Of Remission

  • Idiopathic Macroglobulinaemia

  • Primary Macroglobulinaemia

Diffuse Large B-Cell Lymphoma Activated B-Cell Type
  • Dlbcl Abc Type

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

Central Nervous System Lymphoma
  • Microglioma

  • Primary Cns Lymphoma

  • Cns Lymphoma

  • Primary Central Nervous System Lymphoma

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Richter'S Syndrome
  • Richter Syndrome

  • Richter Transformation

Poliomyelitis
  • Infantile Paralysis

  • Polio

Conjunctivitis
  • Madras Eye

  • Adenoviral Conjunctivitis

  • Acute Adenoviral Follicular Conjunctivitis

  • Inclusion Conjunctivitis Of The Adult

  • Swimming-Pool Conjunctivitis

  • Inflammation Of Conjunctiva

  • Ophthalmia

  • Acute Conjunctivitis

  • Eye Catarrh

  • Catarrhal Ophthalmia

  • Koch-Weeks Conjunctivitis

Pyoderma
Immunoglobulin A Deficiency 1
  • Immunoglobulin A Deficiency

  • Selective Iga Deficiency Disease

  • IGAD1

  • Selective Immunoglobulin A Deficiency

  • Immunoglobulin A, Selective Deficiency Of

  • Iga, Selective Deficiency Of

  • Gamma-A-Globulin, Selective Deficiency Of

  • Selective Iga Immunodeficiency

  • Selective Iga Deficiency

  • Iga Deficiency Selective

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
  • Cll/Sll

  • B-Cell Lymphocytic Leukemia/Small Lymphocytic Lymphoma

  • Icdo:9823/3

  • Chronic Lymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission

  • Small Cell B-Cell Lymphoma

Lymphoma, Mucosa-Associated Lymphoid Type
  • Malt Lymphoma

  • Gastric Lymphoma, Primary

  • Lymphoma, Malt, Somatic

  • Mucosa-Associated Lymphoid Tissue Lymphoma

  • Extranodal Marginal Zone B-Cell Lymphoma

  • MALTOMA

  • Marginal Zone B-Cell Lymphoma

  • Mucosa-Associated Lymphatic Tissue Lymphoma

  • Primary Gastric Lymphoma

  • Gastric Lymphoma

  • Familial Primary Gastric Lymphoma

Blood Platelet Disease
  • Platelet Disorder

  • Blood Platelet Disorders

  • Thrombocytopathy

  • Platelet Dysfunction

  • Platelet Disorders

  • Qualitative Platelet Deficiency

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
Canis familiaris BTK VGNC VGNC:38560
Macaca mulatta BTK VGNC VGNC:82111
Felis catus BTK VGNC VGNC:82460
Rattus norvegicus BTK RGD RGD:1359683
Mus musculus BTK MGD MGI:88216
Bos taurus BTK VGNC VGNC:26601
Others BTK NCBI