MCID: LG4001
MIFTS: 51

Lig4 Syndrome

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Lig4 Syndrome

MalaCards integrated aliases for Lig4 Syndrome:

Name: Lig4 Syndrome 53 12 55 71 36 28 13 51 69
Dna Ligase Iv Deficiency 12 55 14
Ligase 4 Syndrome 55
Lig4s 71

Characteristics:

Orphanet epidemiological data:

55
lig4 syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
closely resembles nijmegen breakage syndrome


Classifications:

Orphanet: 55  
Rare immunological diseases


Summaries for Lig4 Syndrome

Disease Ontology : 12 A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.

MalaCards based summary : Lig4 Syndrome, also known as dna ligase iv deficiency, is related to nijmegen breakage syndrome and severe combined immunodeficiency with sensitivity to ionizing radiation, and has symptoms including hypothyroidism, intellectual disability and global developmental delay. An important gene associated with Lig4 Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are Non-homologous end-joining and DNA Double-Strand Break Repair. Affiliated tissues include b cells, skin and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 LIG4 syndrome: Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.

Description from OMIM: 606593

Related Diseases for Lig4 Syndrome

Graphical network of the top 20 diseases related to Lig4 Syndrome:



Diseases related to Lig4 Syndrome

Symptoms & Phenotypes for Lig4 Syndrome

Symptoms via clinical synopsis from OMIM:

53
Endocrine Features:
hypothyroidism

Hematology:
pancytopenia
myelodysplasia
thrombocytopenia

Head And Neck Eyes:
hypotelorism

Head And Neck Nose:
prominent nose

Skin Nails Hair Skin:
psoriasis
photosensitivity
telangiectasia (1 patient)

Neurologic Central Nervous System:
delayed speech
developmental delay, global

Neoplasia:
t-cell acute lymphoblastic leukemia (in 1 patient)

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Genitourinary Internal Genitalia Female:
amenorrhea

Head And Neck Face:
narrow forehead

Growth Other:
failure to thrive growth retardation

Laboratory Abnormalities:
radiosensitivity, severe


Clinical features from OMIM:

606593

Human phenotypes related to Lig4 Syndrome:

55 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
2 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
3 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
5 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
6 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
7 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
8 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
10 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
11 pancytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001876
12 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
13 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
14 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
15 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
16 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
17 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
18 telangiectasia of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0100585
19 abnormality of chromosome stability 55 31 hallmark (90%) Very frequent (99-80%) HP:0003220
20 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
21 leukocytosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001974
22 erythema 55 31 frequent (33%) Frequent (79-30%) HP:0010783
23 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
24 low anterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0000294
25 acute leukemia 55 31 frequent (33%) Frequent (79-30%) HP:0002488
26 lymphoma 55 31 frequent (33%) Frequent (79-30%) HP:0002665
27 thin vermilion border 55 31 frequent (33%) Frequent (79-30%) HP:0000233
28 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
29 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
30 bird-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000320
31 large beaked nose 55 31 frequent (33%) Frequent (79-30%) HP:0003683
32 severe combined immunodeficiency 55 31 frequent (33%) Frequent (79-30%) HP:0004430
33 immunodeficiency 55 Very frequent (99-80%)
34 abnormality of the skeletal system 55 Occasional (29-5%)
35 abnormality of bone marrow cell morphology 55 Frequent (79-30%)

GenomeRNAi Phenotypes related to Lig4 Syndrome according to GeneCards Suite gene sharing:

25 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.54 PRKDC ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.54 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.54 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.54 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.54 ATR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.54 DCLRE1C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.54 DCLRE1C ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.54 LIG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.54 LIG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.54 DCLRE1C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.54 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.54 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.54 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.54 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.54 ATR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.54 LIG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.54 LIG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.54 LRRK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.54 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.54 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.54 LRRK2 PRKDC ATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.54 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.54 LRRK2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.54 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.54 LRRK2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.54 LIG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.54 PRKDC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.54 LIG1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.54 LIG1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.54 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.54 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.54 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.54 LIG1 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.54 LIG1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.54 LIG1 LRRK2 ATR PRKDC DCLRE1C ATM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.54 LRRK2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.54 DCLRE1C
38 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.88 PRKDC LIG1 XRCC2 LIG4 NBN NLRP3
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 ATR PRKDC LIG1 XRCC2 LIG4 NBN
40 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 ATM ATR DCLRE1C LIG1 LIG4 NBN
41 Decreased viability after gemcitabine stimulation GR00107-A-2 9.5 ATM ATR PRKDC
42 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.26 ATR ATM

MGI Mouse Phenotypes related to Lig4 Syndrome:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 ATR DCLRE1C LIG1 LIG4 LRIG2 LRRK2
2 growth/size/body region MP:0005378 10.4 ATM ATR LIG1 LIG4 LRIG2 NBN
3 hematopoietic system MP:0005397 10.38 NHEJ1 NLRP3 NOD2 PRKDC RAG1 RAG2
4 endocrine/exocrine gland MP:0005379 10.36 NBN NHEJ1 PRKDC RAG1 RAG2 XRCC4
5 immune system MP:0005387 10.36 RAG1 RAG2 XRCC4 XRCC5 XRCC6 ATM
6 homeostasis/metabolism MP:0005376 10.33 NLRP3 NOD2 PRKDC RAG1 RAG2 XRCC2
7 behavior/neurological MP:0005386 10.29 LIG4 LRIG2 LRRK2 NBN PRKDC RAG1
8 mortality/aging MP:0010768 10.22 LRRK2 NBN NHEJ1 NLRP3 NOD2 PRKDC
9 integument MP:0010771 10.14 ATM ATR LIG1 LRIG2 LRRK2 NLRP3
10 digestive/alimentary MP:0005381 10.13 ATR LIG4 NLRP3 NOD2 PRKDC RAG1
11 neoplasm MP:0002006 10.1 ATM ATR LIG1 LIG4 LRIG2 NBN
12 nervous system MP:0003631 10.03 NBN NHEJ1 NLRP3 PRKDC RAG1 RAG2
13 liver/biliary system MP:0005370 9.91 ATR LIG1 LIG4 NLRP3 PRKDC RAG1
14 reproductive system MP:0005389 9.65 ATM ATR LIG4 NBN NLRP3 PRKDC
15 respiratory system MP:0005388 9.17 ATR LRRK2 PRKDC RAG1 RAG2 XRCC2

Drugs & Therapeutics for Lig4 Syndrome

Search Clinical Trials , NIH Clinical Center for Lig4 Syndrome

Genetic Tests for Lig4 Syndrome

Genetic tests related to Lig4 Syndrome:

# Genetic test Affiliating Genes
1 Lig4 Syndrome 28 LIG4

Anatomical Context for Lig4 Syndrome

MalaCards organs/tissues related to Lig4 Syndrome:

38
B Cells, Skin, T Cells, Bone, Bone Marrow

Publications for Lig4 Syndrome

Articles related to Lig4 Syndrome:

# Title Authors Year
1
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. ( 27855655 )
2016
2
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. ( 20133615 )
2010
3
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. ( 17345618 )
2007
4
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. ( 15333585 )
2004
5
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. ( 15279811 )
2004

Variations for Lig4 Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Lig4 Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 LIG4 p.Arg278His VAR_012774 rs104894421
2 LIG4 p.Gly469Glu VAR_012775 rs104894420

ClinVar genetic disease variations for Lig4 Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIG4 NM_002312.3(LIG4): c.1738C> T (p.Arg580Ter) single nucleotide variant Pathogenic rs104894418 GRCh37 Chromosome 13, 108861879: 108861879
2 LIG4 NM_002312.3(LIG4): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894419 GRCh37 Chromosome 13, 108861177: 108861177
3 LIG4 NM_002312.3(LIG4): c.1406G> A (p.Gly469Glu) single nucleotide variant Pathogenic rs104894420 GRCh37 Chromosome 13, 108862211: 108862211
4 LIG4 NM_002312.3(LIG4): c.833G> A (p.Arg278His) single nucleotide variant Pathogenic rs104894421 GRCh37 Chromosome 13, 108862784: 108862784
5 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh37 Chromosome 13, 108863609: 108863609
6 LIG4 NM_002312.3(LIG4): c.26C> T (p.Thr9Ile) single nucleotide variant protective rs1805388 GRCh37 Chromosome 13, 108863591: 108863591
7 LIG4 NM_002312.3(LIG4): c.1298_1300delAAC (p.Gln433del) deletion Pathogenic rs587776663 GRCh37 Chromosome 13, 108862317: 108862319
8 LIG4 NM_002312.3(LIG4): c.1312T> C (p.Tyr438His) single nucleotide variant Likely pathogenic rs886037777 GRCh37 Chromosome 13, 108862305: 108862305
9 LIG4 NM_002312.3(LIG4): c.1751_1755delTAAGA (p.Ile584Argfs) deletion Pathogenic rs770128720 GRCh37 Chromosome 13, 108861862: 108861866
10 LIG4 NM_001098268.1(LIG4): c.2321T> C (p.Leu774Pro) single nucleotide variant Likely pathogenic rs1060499662 GRCh37 Chromosome 13, 108861296: 108861296

Expression for Lig4 Syndrome

Search GEO for disease gene expression data for Lig4 Syndrome.

Pathways for Lig4 Syndrome

Pathways related to Lig4 Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Non-homologous end-joining hsa03450

Pathways related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 ATM ATR DCLRE1C LIG1 LIG4 NBN
2
Show member pathways
12.63 ATM ATR LIG1 LIG4 NBN PRKDC
3 12.38 ATM ATR DCLRE1C LIG4 NBN NHEJ1
4
Show member pathways
12.27 NOD2 PRKDC XRCC5 XRCC6
5
Show member pathways
12.2 ATM ATR NBN PRKDC
6
Show member pathways
12.12 ATM ATR NBN XRCC2
7
Show member pathways
11.97 ATM DCLRE1C LIG4 NBN NHEJ1 PRKDC
8
Show member pathways
11.79 NBN XRCC5 XRCC6
9
Show member pathways
11.64 ATM ATR NBN
10 11.58 ATM NBN XRCC5 XRCC6
11 11.46 ATM ATR DCLRE1C NBN PRKDC
12 11.44 PRKDC XRCC5 XRCC6
13 11.31 ATM ATR NBN
14 11.22 DCLRE1C RAG1 RAG2
15 11.1 ATM ATR PRKDC XRCC4
16 11.1 ATM ATR NBN PRKDC XRCC5 XRCC6
17 10.85 ATM ATR
18
Show member pathways
10.77 ATM NBN
19 10.55 DCLRE1C LIG4 NBN PRKDC XRCC4 XRCC5

GO Terms for Lig4 Syndrome

Cellular components related to Lig4 Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 9.61 PRKDC XRCC5 XRCC6
2 nuclear chromosome, telomeric region GO:0000784 9.56 ATM ATR DCLRE1C LIG4 NBN PRKDC
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.5 LIG4 PRKDC XRCC4
4 nuclear telomere cap complex GO:0000783 9.46 XRCC5 XRCC6
5 Ku70:Ku80 complex GO:0043564 9.4 XRCC5 XRCC6
6 DNA ligase IV complex GO:0032807 9.33 LIG4 NHEJ1 XRCC4
7 nonhomologous end joining complex GO:0070419 9.17 DCLRE1C LIG4 NHEJ1 PRKDC XRCC4 XRCC5
8 nucleus GO:0005634 10.27 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
9 nucleoplasm GO:0005654 10.1 ATM ATR DCLRE1C LIG1 LIG4 NBN

Biological processes related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.98 ATM ATR LRRK2 PRKDC
2 DNA replication GO:0006260 9.97 ATM ATR LIG1 LIG4 NBN
3 response to ionizing radiation GO:0010212 9.91 ATM DCLRE1C LIG4 NHEJ1 PRKDC XRCC2
4 double-strand break repair GO:0006302 9.91 DCLRE1C LIG4 NBN NHEJ1 PRKDC XRCC4
5 DNA recombination GO:0006310 9.9 DCLRE1C LIG1 LIG4 NHEJ1 PRKDC RAG1
6 double-strand break repair via homologous recombination GO:0000724 9.88 ATM NBN XRCC2
7 B cell differentiation GO:0030183 9.88 DCLRE1C NHEJ1 RAG1 RAG2
8 telomere maintenance GO:0000723 9.88 ATM DCLRE1C NBN PRKDC XRCC5 XRCC6
9 positive regulation of type I interferon production GO:0032481 9.87 PRKDC XRCC5 XRCC6
10 DNA duplex unwinding GO:0032508 9.87 NBN XRCC5 XRCC6
11 somitogenesis GO:0001756 9.87 ATM PRKDC XRCC2
12 thymus development GO:0048538 9.85 ATM PRKDC RAG1
13 DNA synthesis involved in DNA repair GO:0000731 9.83 ATM NBN XRCC2
14 positive regulation of telomere maintenance via telomerase GO:0032212 9.83 ATM ATR XRCC5
15 response to gamma radiation GO:0010332 9.81 LIG4 PRKDC XRCC2
16 T cell differentiation in thymus GO:0033077 9.81 LIG4 PRKDC RAG1 RAG2
17 strand displacement GO:0000732 9.8 ATM NBN XRCC2
18 cellular response to gamma radiation GO:0071480 9.8 ATM ATR XRCC5 XRCC6
19 positive regulation of neurogenesis GO:0050769 9.78 LIG4 XRCC2 XRCC5
20 response to X-ray GO:0010165 9.77 LIG4 XRCC2 XRCC4
21 activation of innate immune response GO:0002218 9.77 PRKDC XRCC5 XRCC6
22 establishment of integrated proviral latency GO:0075713 9.76 LIG4 XRCC4 XRCC5 XRCC6
23 DNA ligation GO:0006266 9.74 LIG1 LIG4 XRCC6
24 cellular response to X-ray GO:0071481 9.73 ATM XRCC5 XRCC6
25 DNA double-strand break processing GO:0000729 9.72 ATM NBN
26 isotype switching GO:0045190 9.72 LIG4 NBN
27 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.72 LRRK2 NOD2
28 determination of adult lifespan GO:0008340 9.72 ATM LRRK2
29 replicative senescence GO:0090399 9.71 ATM ATR
30 cellular response to lithium ion GO:0071285 9.71 LIG4 XRCC4
31 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.71 ATM ATR
32 DNA ligation involved in DNA repair GO:0051103 9.71 LIG1 LIG4 XRCC4
33 protein localization to chromosome, telomeric region GO:0070198 9.7 ATR XRCC5
34 positive regulation of type 2 immune response GO:0002830 9.7 NLRP3 NOD2
35 cellular response to peptidoglycan GO:0071224 9.7 NLRP3 NOD2
36 regulation of smooth muscle cell proliferation GO:0048660 9.7 PRKDC XRCC5 XRCC6
37 negative regulation of telomere capping GO:1904354 9.69 ATM NBN
38 T cell lineage commitment GO:0002360 9.68 PRKDC RAG2
39 T cell receptor V(D)J recombination GO:0033153 9.68 LIG4 PRKDC
40 pro-B cell differentiation GO:0002328 9.67 LIG4 PRKDC
41 positive regulation of ligase activity GO:0051351 9.67 NHEJ1 XRCC4
42 B cell lineage commitment GO:0002326 9.67 PRKDC RAG2
43 immunoglobulin V(D)J recombination GO:0033152 9.66 LIG4 PRKDC
44 cellular hyperosmotic salinity response GO:0071475 9.65 XRCC5 XRCC6
45 detection of biotic stimulus GO:0009595 9.65 NLRP3 NOD2
46 pre-B cell allelic exclusion GO:0002331 9.65 ATM RAG1 RAG2
47 cytokine secretion involved in immune response GO:0002374 9.64 NLRP3 NOD2
48 double-strand break repair via classical nonhomologous end joining GO:0097680 9.64 LIG4 XRCC6
49 establishment of RNA localization to telomere GO:0097694 9.62 ATM ATR
50 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.62 ATM ATR

Molecular functions related to Lig4 Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.78 LIG4 XRCC4 XRCC5 XRCC6
2 DNA binding GO:0003677 9.73 ATM ATR LIG1 LIG4 NHEJ1 PRKDC
3 double-stranded DNA binding GO:0003690 9.56 PRKDC XRCC2 XRCC5 XRCC6
4 peptidoglycan binding GO:0042834 9.52 NLRP3 NOD2
5 macromolecular complex binding GO:0044877 9.51 XRCC5 XRCC6
6 ATP-dependent DNA helicase activity GO:0004003 9.5 NBN XRCC5 XRCC6
7 double-stranded telomeric DNA binding GO:0003691 9.49 XRCC5 XRCC6
8 DNA ligase (ATP) activity GO:0003910 9.46 LIG1 LIG4
9 damaged DNA binding GO:0003684 9.46 DCLRE1C NBN XRCC5 XRCC6
10 5-deoxyribose-5-phosphate lyase activity GO:0051575 9.43 XRCC5 XRCC6
11 DNA-dependent protein kinase activity GO:0004677 9.4 ATM PRKDC
12 DNA ligase activity GO:0003909 9.37 LIG1 LIG4
13 ATP binding GO:0005524 9.36 ATM ATR LIG1 LIG4 LRRK2 NLRP3
14 protein binding GO:0005515 10.44 ATM ATR COX5A DCLRE1C LIG4 LRRK2

Sources for Lig4 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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