NBN - nibrin Gene

Also Known as ATV; NBS; P95; NBS1; AT-V1; AT-V2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4683

About NBN

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:89,933,331-89,984,667 (from NCBI)

This gene has 38 transcripts (splice variants), 200 orthologues and is associated with 96 phenotypes. Ubiquitous expression in appendix (RPKM 14.8), thyroid (RPKM 14.2) and 25 other tissues.

Summary

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and Cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

NBN Products (2)

mRNA Protein Name
NM_001024688.3 NP_001019859.1 nibrin isoform 2
NM_002485.5 NP_002476.2 nibrin isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
11486038 GOA
enables chromatin-protein adaptor activity IDA
IDA: Inferred from direct assay
18411307 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
19338747 GOA
enables phosphorylation-dependent protein binding IDA
IDA: Inferred from direct assay
18411307 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9590181 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: Inferred from direct assay
16622404 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within DNA damage checkpoint signaling IDA
IDA: Inferred from direct assay
12529385 GOA
involved in DNA double-strand break processing IDA
IDA: Inferred from direct assay
16622404 GOA
involved in DNA duplex unwinding IMP
IMP: Inferred from mutant phenotype
15790808 GOA
involved in DNA strand resection involved in replication fork processing IDA
IDA: Inferred from direct assay
27814491 GOA
involved in R-loop processing IDA
IDA: Inferred from direct assay
31537797 GOA
involved in double-strand break repair IDA
IDA: Inferred from direct assay
9590181 GOA
involved in double-strand break repair via alternative nonhomologous end joining IDA
IDA: Inferred from direct assay
28216226 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
22464731 GOA
involved in mitotic G2 DNA damage checkpoint signaling IDA
IDA: Inferred from direct assay
11438675 GOA
involved in negative regulation of telomere capping IMP
IMP: Inferred from mutant phenotype
17694070 GOA
involved in positive regulation of kinase activity IDA
IDA: Inferred from direct assay
15790808 GOA
involved in positive regulation of protein autophosphorylation IDA
IDA: Inferred from direct assay
15790808 GOA
involved in positive regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
16374507 GOA
involved in protection from non-homologous end joining at telomere IDA
IDA: Inferred from direct assay
28216226 GOA
involved in protein localization to site of double-strand break IDA
IDA: Inferred from direct assay
18411307 GOA
involved in t-circle formation IMP
IMP: Inferred from mutant phenotype
27918544 GOA
involved in telomere maintenance IMP
IMP: Inferred from mutant phenotype
11448772 GOA
involved in telomere maintenance in response to DNA damage IDA
IDA: Inferred from direct assay
28216226 GOA
involved in telomere maintenance via telomere trimming IGI
IGI: Inferred from genetic interaction
27918544 GOA
involved in telomeric 3' overhang formation IMP
IMP: Inferred from mutant phenotype
16374507 GOA
Cellular Component GO Annotation Evidence References Source
part of BRCA1-C complex IPI
IPI: Inferred from physical interaction
16391231 GOA
part of Mre11 complex IDA
IDA: Inferred from direct assay
9590181 GOA
part of Mre11 complex IPI
IPI: Inferred from physical interaction
31147924 GOA
located in PML body IDA
IDA: Inferred from direct assay
10811102 GOA
is active in chromosome, telomeric region IDA
IDA: Inferred from direct assay
28216226 GOA
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
10888888 GOA
located in nuclear inclusion body IDA
IDA: Inferred from direct assay
12447371 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
10888888 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10888888 GOA
is active in site of double-strand break IDA
IDA: Inferred from direct assay
16622404 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
15916964 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

NBN Protein Structure

FHA

FHA: FHA domain (24 - 100)

Nbs1_C

Nbs1_C: DNA damage repair protein Nbs1 (683 - 746)

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

nibrin

  • Nijmegen breakage syndrome 1 (nibrin)

NBN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NBN O60934 VRK1 Homo sapiens Q99986 26869104
Intra
NBN O60934 VRK1 Homo sapiens Q99986 26869104
Intra
NBN O60934 VRK1 Homo sapiens Q99986 26869104
Intra
NBN O60934 VRK1 Homo sapiens Q99986 26869104
Intra
NBN O60934 VRK1 Homo sapiens Q99986 26869104
Intra
NBN O60934 SIRT1 Homo sapiens Q96EB6 17612497
Intra
NBN O60934 SIRT1 Homo sapiens Q96EB6 17612497
Intra
NBN O60934 FANCD2 Homo sapiens Q9BXW9 19609304
Intra
NBN O60934 TCOF1 Homo sapiens Q13428 25064736
Intra
NBN O60934 TCOF1 Homo sapiens Q13428
ITC
25064736
Intra
NBN O60934 TCOF1 Homo sapiens Q13428 25064736
Intra
NBN O60934 TCOF1 Homo sapiens Q13428
TAP
25064736
Intra
NBN O60934 TCOF1 Homo sapiens Q13428 25064736
Intra
NBN O60934 MRE11 Homo sapiens P49959 17612497
Intra
NBN O60934 EP300 Homo sapiens Q09472 21108945
Intra
NBN O60934 H2AX Homo sapiens P16104 18001824
Intra
NBN O60934 H2AX Homo sapiens P16104
IF
18001825
Intra
NBN O60934 H2AX Homo sapiens P16104 12419185
Intra
NBN O60934 H2AX Homo sapiens P16104
IF
22157895
Intra
NBN O60934 MDC1 Homo sapiens Q14676 12607005
Intra
NBN O60934 MDC1 Homo sapiens Q14676 18583988
Intra
NBN O60934 MDC1 Homo sapiens Q14676 18001824
Intra
NBN O60934 MDC1 Homo sapiens Q14676 18001824
Intra
NBN O60934 MDC1 Homo sapiens Q14676 12607005
Intra
NBN O60934 MDC1 Homo sapiens Q14676 18678890
Intra
NBN O60934 RAD17 Homo sapiens O75943 24534091
Intra
NBN O60934 RAD17 Homo sapiens O75943 24534091
Cross: Cross-species interaction Intra: Intraspecies interaction

NBN Antibodies

Cat. No. Product Name Application Reactivity
HY-P80473 Phospho-p95/NBS1 (Ser343) Antibody (YA165) WB, ICC/IF, IHC-P, IP Human, Mouse
HY-P81775 p95/NBS1 Antibody (YA1520) WB, ICC/IF, IP Human
HY-P81775A p95/NBS1 Antibody (YA1520)(PBS only) WB, ICC/IF, IP Human
HY-P83358 Phospho-p95/NBS1 (Ser343) Antibody (YA3103) WB, ICC/IF, IP Human

Related Diseases

Diseases Alias
Nijmegen Breakage Syndrome
  • Berlin Breakage Syndrome

  • NBS

  • Microcephaly, Normal Intelligence And Immunodeficiency

  • Ataxia-Telangiectasia Variant

  • Ataxia-Telangiectasia Variant V1

  • Seemanova Syndrome Ii

  • Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

  • Seemanova Syndrome Type 2

  • At-V1

  • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

  • Immunodeficiency, Microcephaly, And Chromosomal Instability

  • Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

  • Microcephaly Immunodeficiency Lymphoreticuloma

  • Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

  • Seemanova Syndrome 2

  • Ataxia-Telangiectasia Variant 1

  • Seemanova Syndrome

  • At V1

  • Ataxia-Telangiectasia, Variant 1

  • Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

  • V-At

  • Ataxia Telangiectasia Variant V1

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

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

Ovarian Cancer 1
  • Ovarian Cancer, Susceptibility To

  • Ovarian Cancer, Susceptibility To, 1

  • OVCAS1

  • Ovarian Cancer

  • Ovarian Carcinoma

  • Malignant Neoplasm Of Ovary

  • Epithelial Ovarian Cancer

Breast-Ovarian Cancer, Familial 1
  • BROVCA1

  • Breast-Ovarian Cancer, Familial, Susceptibility To, 1

  • Breast-Ovarian Cancer, Familial, 1

  • Brca2 Hereditary Breast And Ovarian Cancer Syndrome

  • Hboc1

  • Brca1 Hereditary Breast And Ovarian Cancer Syndrome

  • Familial Susceptibility To Breast-Ovarian Cancer 1

  • Brovca2

  • Familial Susceptibility To Breast-Ovarian Cancer 2

  • Hboc

  • Breast Cancer Familial 1

  • Ovarian Cancer Familial 1

  • Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 1

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

Lissencephaly
  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The 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

  • 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

Bap1 Tumor Predisposition Syndrome
  • Bap1-Related Tumor Predisposition Syndrome

  • Common Syndrome

  • Bap1 Cancer Syndrome

  • Bap1-Tpds

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

  • Tumor Predisposition Syndrome

  • Tumor Susceptibility Linked To Germline Bap1 Mutations

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

  • Tumor Predisposition

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

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

Werner Syndrome
  • Werner'S Syndrome

  • WRN

  • Adult Progeria

  • Ws

  • Adult Premature Ageing Syndrome

  • Adult Premature Aging Syndrome

  • Werners Syndrome

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
  • Aoa1

  • Ataxia-Telangiectasia-Like Disorder

  • EAOH

  • Eoca-Ha

  • Ataxia With Oculomotor Apraxia Type 1

  • Ataxia-Oculomotor Apraxia 1

  • Ataxia-Oculomotor Apraxia Syndrome

  • AOA

  • Ataxia-Telangiectasia-Like Syndrome

  • Ataxia-Oculomotor Apraxia Type 1

  • Ataxia With Oculomotor Apraxia

  • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

  • Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

  • Early-Onset Cerebellar Ataxia With Hypoalbuminemia

  • Adult Onset Ataxia With Oculomotor Apraxia

  • Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

  • Scan2

  • Scar1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

  • Atld

  • Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

  • Cerebellar Ataxia Early-Onset With Hypoalbuminemia

  • Ataxia-Oculomotor Apraxia

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

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

Diamond-Blackfan Anemia 11
  • DBA11

  • Rpl26-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 11

Dyskeratosis Congenita, Autosomal Dominant 2
  • Autosomal Recessive Dyskeratosis Congenita 4

  • DKCA2

  • Autosomal Dominant Dyskeratosis Congenita 2

  • DKCB4

  • Dyskeratosis Congenita, Autosomal Dominant, 2

  • Dyskeratosis Congenita Scoggins Type

  • Dyskeratosis Congenita, Autosomal Recessive, 4

  • Dyskeratosis Congenita, Autosomal Recessive 4

  • Dyskeratosis Congenita, Autosomal Dominant, Type 2

Lig4 Syndrome
  • Dna Ligase Iv Deficiency

  • Ligase 4 Syndrome

  • LIG4S

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Autosomal Recessive Cerebellar Ataxia
  • Arca

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • 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

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

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

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • 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

Telangiectasis
  • Telangiectasia

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

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

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Pancytopenia
Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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 NBN VGNC VGNC:97208
Felis catus NBN VGNC VGNC:68419
Rattus norvegicus NBN RGD RGD:621420
Bos taurus NBN VGNC VGNC:31895
Mus musculus NBN MGD MGI:1351625
Macaca mulatta NBN VGNC VGNC:75134
Others NBN NCBI