CHUK - component of inhibitor of nuclear factor kappa B kinase complex Gene

Also Known as BPS2; IKK1; IKKA; IKBKA; TCF16; NFKBIKA; IKK-alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1147

About CHUK

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,186,319-100,229,596 (from NCBI)

This gene has 4 transcripts (splice variants), 266 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 4.9), bone marrow (RPKM 4.7) and 25 other tissues.

Summary

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]

CHUK Products (7)

mRNA Protein Name
NM_001320928.2 NP_001307857.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 2
NM_001278.5 NP_001269.3 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 1
XM_047424540.1 XP_047280496.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform X1
XM_017015612.2 XP_016871101.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform X4
XM_047424543.1 XP_047280499.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform X5
XM_047424541.1 XP_047280497.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform X2
XM_047424542.1 XP_047280498.1 inhibitor of nuclear factor kappa-B kinase subunit alpha isoform X3
Molecular Function GO Annotation Evidence Referencias Source
enables IkappaB kinase activity IDA
IDA: Inferred from direct assay
9244310 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8246997 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
23091055 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
23091055 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
20434986 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12656673 GOA
enables scaffold protein binding IDA
IDA: Inferred from direct assay
23776175 GOA
enables transferrin receptor binding IPI
IPI: Inferred from physical interaction
23016877 GOA
Cellular Component GO Annotation Evidence Referencias Source
part of IkappaB kinase complex IPI
IPI: Inferred from physical interaction
20434986 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
30341167 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

CHUK Protein Structure

Pkinase

Pkinase: Protein kinase domain (16 - 288)

IKKbetaNEMObind

IKKbetaNEMObind: I-kappa-kinase-beta NEMO binding domain (706 - 743)

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

inhibitor of nuclear factor kappa-B kinase subunit alpha

  • I-kappa-B kinase 1

  • I-kappa-B kinase-alpha

  • IKK-a kinase

  • IkB kinase alpha subunit

  • Nuclear factor NFkappaB inhibitor kinase alpha

  • TCF-16

  • conserved helix-loop-helix ubiquitous kinase

  • transcription factor 16

CHUK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
CHUK O15111 CDC37 Homo sapiens Q16543 32707033
Intra
CHUK O15111 CDC37 Homo sapiens Q16543 35271311
Intra
CHUK O15111 CDC37 Homo sapiens Q16543 21903422
Intra
CHUK O15111 NFKB1 Homo sapiens P19838 12482991
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 12730857
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 12486103
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 18922877
Intra
CHUK O15111 NFKBIA Homo sapiens P25963
TAP
14743216
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 16286467
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 23602409
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 21765415
Intra
CHUK O15111 NFKBIA Homo sapiens P25963 9520446
Intra
CHUK O15111 NFKBIB Homo sapiens Q15653
TAP
14743216
Intra
CHUK O15111 MAP3K14 Homo sapiens Q99558
TAP
14743216
Intra
CHUK O15111 MAP3K14 Homo sapiens Q99558 16286467
Intra
CHUK O15111 MAP3K14 Homo sapiens Q99558
PLA
25241761
Intra
CHUK O15111 MAP3K14 Homo sapiens Q99558 10094049
Cross
CHUK O15111 OPG200 vaccinia virus P24772 18266467
Intra
CHUK O15111 MYC Homo sapiens P01106 21575199
Intra
CHUK O15111 CDKN1B Homo sapiens P46527 23602409
Intra
CHUK O15111 RELA Homo sapiens Q04206 21903422
Intra
CHUK O15111 RELA Homo sapiens Q04206 8246997
Intra
CHUK O15111 IKBKB Homo sapiens O14920 12486103
Intra
CHUK O15111 IKBKB Homo sapiens O14920 16319058
Intra
CHUK O15111 IKBKB Homo sapiens O14920 32707033
Intra
CHUK O15111 IKBKB Homo sapiens O14920 20434986
Intra
CHUK O15111 IKBKB Homo sapiens O14920 35271311
Intra
CHUK O15111 IKBKB Homo sapiens O14920
PLA
25241761
Intra
CHUK O15111 IKBKB Homo sapiens O14920 21903422
Intra
CHUK O15111 IKBKB Homo sapiens O14920 9751060
Intra
CHUK O15111 IKBKB Homo sapiens O14920
TAP
14743216
Intra
CHUK O15111 IKBKB Homo sapiens O14920 16129692
Intra
CHUK O15111 IKBKB Homo sapiens O14920 11971985
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 9751060
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9
TAP
14743216
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 12486103
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 16938294
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 9751060
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 21903422
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 25355947
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 35271311
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 17568778
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 32707033
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 20434986
Intra
CHUK O15111 IKBKG Homo sapiens Q9Y6K9 16126728
Intra
CHUK O15111 IRF7 Homo sapiens Q92985 18922877
Cross
CHUK O15111 E7 Human papillomavirus 93 Q6TY35 22776252
Cross
CHUK O15111 E7 Human papillomavirus Q80901 22776252
Cross
CHUK O15111 E7 human papillomavirus Q6TY28 22776252
Cross
CHUK O15111 E7 Human papillomavirus Q07857 22776252
Cross
CHUK O15111 P Measles virus Q77M19 18922877
Cross: Cross-species interaction Intra: Intraspecies interaction

CHUK Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P80413 IKK alpha Antibody (YA348) WB, ICC/IF, IHC-P, FC, IP Human, Mouse
HY-P80414 IKK alpha + IKK beta Antibody (YA349) WB, ICC/IF, IP Human, Mouse
HY-P82126 IKK alpha/beta Antibody (YA1871) WB, ICC/IF, IP Human, Mouse, Rat
HY-P83823 CHUK Antibody (YA3520) WB, ICC/IF, FC, ELISA Human
HY-P83823A CHUK Antibody (YA3520)(PBS only) WB, ICC/IF, FC, ELISA Human
HY-P85216 IKK alpha Antibody (YA4908) WB, ICC/IF, FC, ELISA Human
HY-P86384 IKK alpha Antibody (YA6076) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat
HY-P86459 IKK alpha/beta Antibody (YA6151) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

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

Fetal Encasement Syndrome
  • Cocoon Syndrome

  • COCOS

  • Fetal Diseases

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Popliteal Pterygium Syndrome
  • PPS

  • Faciogenitopopliteal Syndrome

  • Facio-Genito-Popliteal Syndrome

  • Popliteal Web Syndrome

  • Autosomal Dominant Popliteal Pterygium Syndrome

  • Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies

  • Popliteal Pterygium Syndrome 1

  • Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies

  • Popliteal Pterygium

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

B-Cell Lymphoma
  • Lymphoma, B-Cell

  • B-Cell Lymphomas

  • B-Cell Lymphocytic Neoplasm

  • Lymphoma B-Cell

  • B-Cell Lymphoma Nos

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

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Pancreatic Adenocarcinoma
  • Adenocarcinoma Of Pancreas

  • Adenocarcinoma Of The Pancreas

  • Pancreas Adenocarcinoma

  • Malignant Exocrine Neoplasm

  • Primary Pancreatic Adenocarcinoma

  • Adenocarcinoma Of Islet Cell Of Pancreas

  • Islet Cell Adenocarcinoma Of Unspecified Site

  • Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Hepatitis B
  • Chronic Hepatitis B

  • Hepatitis B Infection

  • Serum Hepatitis

  • HBV

  • Hepatitis B Chronic

  • Hbv, Susceptibility To

  • Hepatitis B, Chronic

  • Chronic Hepatitis B Without Delta Agent

  • Chronic Hbv - [Hepatitis B Virus] Infection

  • Hepatitis B Nos

  • Chronic Type B Viral Hepatitis

  • Hep B Nos

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

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

Lymphoma, Hodgkin, Classic
  • Hodgkin Lymphoma

  • Hodgkin Disease

  • Hodgkin'S Lymphoma

  • Hodgkins Lymphoma

  • Classic Hodgkin Lymphoma

  • CHL

  • Hodgkin Lymphoma, Susceptibility To

  • Hl

  • Hodgkin'S Sarcoma

  • Stage I Subdiaphragmatic Hodgkin Lymphoma

  • Stage Ii Subdiaphragmatic Hodgkin Lymphoma

  • Lymphoma, Hodgkin'S

  • Classic Hodgkin Disease

  • Hodgkin'S Disease

  • Lymphoma, Hodgkin, Susceptibility To

  • Hodgkin'S Disease Of Intrapelvic Lymph Nodes

  • Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

  • Malignant Lymphogranuloma

  • Malignant Lymphogranulomatosis

  • Malignant Hodgkin Lymphoma

  • Classical Hodgkin Lymphoma, Type Not Specified

Incontinentia Pigmenti
  • Bloch-Sulzberger Syndrome

  • IP

  • Incontinentia Pigmenti, Familial Male-Lethal Type

  • Incontinentia Pigmenti Syndrome

  • Bloch-Siemens Syndrome

  • Ip2

  • Incontinentia Pigmenti, Type Ii, Formerly

  • Ip2, Formerly

  • Incontinentia Pigmenti Type 2

  • Bloch-Siemens-Sulzberger Syndrome

  • Familial Incontinentia Pigmenti Male-Lethal Type

  • Familial Incontinentia Pigmenti Type Ii

  • Incontinentia Pigmenti, Type Ii

  • Bloch Sulzberger Syndrome

  • Incontinentia Pigmenti Achromians

  • Incontinentia Pigmenti Of Bloch-Sulzberger

  • Nevus Pigmentosus Systematicus

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

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

Glycogen Storage Disease Iv
  • Gsd Iv

  • Glycogen Branching Enzyme Deficiency

  • Andersen Disease

  • Amylopectinosis

  • Glycogen Storage Disease Type Iv

  • GSD4

  • Brancher Deficiency

  • Glycogen Storage Disease, Type Iv

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gbe1 Deficiency

  • Glycogenosis Iv

  • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

  • Glycogen Storage Disease Type 4

  • Glycogenosis 4

  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

  • Andersen'S Disease

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Brancher Deficiency Glycogenosis

  • Branching-Transferase Deficiency Glycogenosis

  • Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

  • Andersen-Tawil Syndrome

  • Gsd 4

  • Andersen Cardiodysrhythmic Periodic Paralysis

  • Lqt7

  • Long Qt Syndrome 7

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Andersen Glycogenosis

  • Branching Enzyme Deficiency

  • Glycogenosis, Type Iv

  • Gsd Type Iv

  • Type Iv Glycogenosis

  • Gbe Deficiency, Childhood Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Gsd Type 4, Childhood Neuromuscular Form

  • Gsdiv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogenosis Type 4, Childhood Neuromuscular Form

  • Glycogenosis Type Iv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gbe Deficiency, Adult Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gsd Type 4, Adult Neuromuscular Form

  • Gsdiv, Adult Neuromuscular Form

  • Glycogen Storage Disease Type 4, Adult Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Glycogenosis Type 4, Adult Neuromuscular Form

  • Glycogenosis Type Iv, Adult Neuromuscular Form

  • Gbe Deficiency, Congenital Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gsd Type 4, Congenital Neuromuscular Form

  • Gsdiv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Glycogenosis Type 4, Congenital Neuromuscular Form

  • Glycogenosis Type Iv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

  • Gsdiv, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Type 4, Fatal Perinatal Neuromuscular Form

  • Gsdiv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gbe Deficiency, Non Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gsd Type 4, Non Progressive Hepatic Form

  • Gsdiv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Glycogenosis Type 4, Non Progressive Hepatic Form

  • Glycogenosis Type Iv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gbe Deficiency, Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gsd Type 4, Progressive Hepatic Form

  • Gsdiv, Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Glycogenosis Type 4, Progressive Hepatic Form

  • Glycogenosis Type Iv, Progressive Hepatic Form

  • Glycogen Storage Disease 4

  • Gsd-Iv

  • Storage Disease, Glycogen, Type Iv

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

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

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

Myeloma, Multiple
  • Multiple Myeloma

  • Kahler Disease

  • Myelomatosis

  • Plasma Cell Myeloma

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler'S Disease

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Ectodermal Dysplasia
  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
  • Hypohidrotic Ectodermal Dysplasia

  • Hed

  • Anhidrotic Ectodermal Dysplasia

  • Ectodermal Dysplasia, Hypohidrotic

  • Eda

  • Christ-Siemens-Touraine Syndrome

  • ECTD10B

  • Ectodermal Dysplasia Anhidrotic

  • Ectodermal Dysplasia, Anhidrotic

  • Cst Syndrome

  • Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

  • Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

  • Dysplasia, Ectodermal, Hypohidrotic

  • Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

  • Ectodermal Dysplasia 3, Anhidrotic

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Hepatitis
  • Chronic Hepatitis

  • Chronic Persistent Hepatitis

  • Acute Hepatitis

  • Hepatitis, Chronic

  • Acute And Subacute Liver Necrosis

  • Acute/Subac. Necrosis Of Liver

  • Animal Hepatitis

  • Hepatitis Chronic

  • Hepatitis A

  • Hepatitis, Animal

  • Hepatitis Due To Toxoplasmosis

  • Hepatitis In Toxoplasmosis

  • Toxoplasmal Hepatitis

  • Chronic Hepatitis, Unspecified

  • Chronic Active Hepatitis Nec

  • Other Specified Chronic Hepatitis

  • Chronic Persistent Hepatitis Nec

  • Chronic Lobular Hepatitis Nec

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

Bartsocas-Papas Syndrome 2
  • BPS2

  • Popliteal Pterygium Syndrome, Bartsocas-Papas Type 2

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
Bos taurus CHUK VGNC VGNC:27354
Canis familiaris CHUK VGNC VGNC:39261
Rattus norvegicus CHUK RGD RGD:1306661
Felis catus CHUK VGNC VGNC:60894
Mus musculus CHUK MGD MGI:99484
Macaca mulatta CHUK VGNC VGNC:71058
Others CHUK NCBI