MCID: LG4001
MIFTS: 54

Lig4 Syndrome

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

Aliases & Classifications for Lig4 Syndrome

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 omenn syndrome, and has symptoms including hepatomegaly, microcephaly and micrognathia. An important gene associated with Lig4 Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Dermatologic Agents and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

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

Clinical features from OMIM:

606593

Human phenotypes related to Lig4 Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
2 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
4 bird-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000320
5 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
7 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
8 low anterior hairline 56 32 frequent (33%) Frequent (79-30%) HP:0000294
9 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
10 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
11 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
12 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
13 pancytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001876
14 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
15 lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002716
16 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
17 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
18 lymphoma 56 32 frequent (33%) Frequent (79-30%) HP:0002665
19 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
20 leukocytosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001974
21 severe combined immunodeficiency 56 32 frequent (33%) Frequent (79-30%) HP:0004430
22 growth delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001510
23 biparietal narrowing 56 32 frequent (33%) Frequent (79-30%) HP:0004422
24 type ii diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0005978
25 cutaneous photosensitivity 56 32 frequent (33%) Frequent (79-30%) HP:0000992
26 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
27 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
28 abnormality of chromosome stability 56 32 hallmark (90%) Very frequent (99-80%) HP:0003220
29 upslanted palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0000582
30 acute leukemia 56 32 frequent (33%) Frequent (79-30%) HP:0002488
31 large beaked nose 56 32 frequent (33%) Frequent (79-30%) HP:0003683
32 immunodeficiency 56 Very frequent (99-80%)
33 abnormality of the skeletal system 56 Occasional (29-5%)
34 teleangiectasia of the skin 56 Occasional (29-5%)
35 abnormality of bone marrow cell morphology 56 Frequent (79-30%)
36 telangiectasia of the skin 32 occasional (7.5%) HP:0100585

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

26
id 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 PRKDC ATM LRRK2
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 ATM LIG1
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 LRRK2 ATR PRKDC DCLRE1C ATM LIG1
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 LIG1 LIG4 NBN NLRP3 ATM NOD2
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 LIG1 LIG4 NBN NLRP3 ATM NOD2
40 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 NHEJ1 PRKDC XRCC2 XRCC4 XRCC5 XRCC6
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 ATM ATR

MGI Mouse Phenotypes related to Lig4 Syndrome:

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

Drugs & Therapeutics for Lig4 Syndrome

Drugs for Lig4 Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents
2 Protective Agents
3 Radiation-Protective Agents
4 Sunscreening Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633

Search NIH Clinical Center for Lig4 Syndrome

Genetic Tests for Lig4 Syndrome

Genetic tests related to Lig4 Syndrome:

id Genetic test Affiliating Genes
1 Lig4 Syndrome 29 24 LIG4

Anatomical Context for Lig4 Syndrome

MalaCards organs/tissues related to Lig4 Syndrome:

39
Skin, B Cells, T Cells, Bone, Bone Marrow

Publications for Lig4 Syndrome

Articles related to Lig4 Syndrome:

id 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
id 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
id 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 GeneCards Suite gene sharing:

(show all 18)
id 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
11.64 ATM ATR NBN
9 11.58 ATM NBN XRCC5 XRCC6
10 11.46 ATM ATR DCLRE1C NBN PRKDC
11 11.44 PRKDC XRCC5 XRCC6
12 11.31 ATM ATR NBN
13 11.22 DCLRE1C RAG1 RAG2
14 11.1 ATM ATR PRKDC XRCC4
15 11.1 ATM ATR NBN PRKDC XRCC5 XRCC6
16 10.85 ATM ATR
17
Show member pathways
10.77 ATM NBN
18 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:

id 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 replication fork GO:0005657 9.48 NBN XRCC2
5 nuclear telomere cap complex GO:0000783 9.46 XRCC5 XRCC6
6 Ku70:Ku80 complex GO:0043564 9.4 XRCC5 XRCC6
7 DNA ligase IV complex GO:0032807 9.33 LIG4 NHEJ1 XRCC4
8 nonhomologous end joining complex GO:0070419 9.17 DCLRE1C LIG4 NHEJ1 PRKDC XRCC4 XRCC5
9 nucleus GO:0005634 10.27 ATM ATR DCLRE1C LIG1 LIG4 LRRK2
10 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 52)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.97 ATM ATR LRRK2 PRKDC
2 DNA replication GO:0006260 9.97 ATM ATR LIG1 LIG4 NBN
3 double-strand break repair GO:0006302 9.91 DCLRE1C LIG4 NBN NHEJ1 PRKDC XRCC4
4 B cell differentiation GO:0030183 9.88 DCLRE1C NHEJ1 RAG1 RAG2
5 response to ionizing radiation GO:0010212 9.88 ATM DCLRE1C LIG4 NHEJ1 PRKDC XRCC2
6 double-strand break repair via homologous recombination GO:0000724 9.87 ATM NBN XRCC2
7 positive regulation of type I interferon production GO:0032481 9.86 PRKDC XRCC5 XRCC6
8 DNA duplex unwinding GO:0032508 9.86 NBN XRCC5 XRCC6
9 somitogenesis GO:0001756 9.86 ATM PRKDC XRCC2
10 thymus development GO:0048538 9.85 ATM PRKDC RAG1
11 telomere maintenance GO:0000723 9.85 DCLRE1C NBN PRKDC XRCC5 XRCC6
12 DNA recombination GO:0006310 9.85 DCLRE1C LIG1 LIG4 PRKDC RAG1 RAG2
13 DNA synthesis involved in DNA repair GO:0000731 9.82 ATM NBN XRCC2
14 positive regulation of telomere maintenance via telomerase GO:0032212 9.82 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 cellular response to gamma radiation GO:0071480 9.8 ATM ATR XRCC5 XRCC6
18 positive regulation of neurogenesis GO:0050769 9.79 LIG4 XRCC2 XRCC5
19 strand displacement GO:0000732 9.79 ATM NBN XRCC2
20 response to X-ray GO:0010165 9.76 LIG4 XRCC2 XRCC4
21 DNA ligation GO:0006266 9.73 LIG1 LIG4 XRCC6
22 establishment of integrated proviral latency GO:0075713 9.73 LIG4 XRCC4 XRCC5 XRCC6
23 cellular response to X-ray GO:0071481 9.72 ATM XRCC5 XRCC6
24 DNA double-strand break processing GO:0000729 9.71 ATM NBN
25 isotype switching GO:0045190 9.71 LIG4 NBN
26 determination of adult lifespan GO:0008340 9.71 ATM LRRK2
27 cellular response to lithium ion GO:0071285 9.71 LIG4 XRCC4
28 DNA ligation involved in DNA repair GO:0051103 9.71 LIG1 LIG4 XRCC4
29 replicative senescence GO:0090399 9.7 ATM ATR
30 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.7 ATM ATR
31 regulation of smooth muscle cell proliferation GO:0048660 9.7 PRKDC XRCC5 XRCC6
32 protein localization to chromosome, telomeric region GO:0070198 9.69 ATR XRCC5
33 positive regulation of type 2 immune response GO:0002830 9.69 NLRP3 NOD2
34 negative regulation of telomere capping GO:1904354 9.68 ATM NBN
35 T cell lineage commitment GO:0002360 9.68 PRKDC RAG2
36 T cell receptor V(D)J recombination GO:0033153 9.67 LIG4 PRKDC
37 pro-B cell differentiation GO:0002328 9.66 LIG4 PRKDC
38 positive regulation of ligase activity GO:0051351 9.66 NHEJ1 XRCC4
39 B cell lineage commitment GO:0002326 9.65 PRKDC RAG2
40 immunoglobulin V(D)J recombination GO:0033152 9.65 LIG4 PRKDC
41 pre-B cell allelic exclusion GO:0002331 9.65 ATM RAG1 RAG2
42 cellular hyperosmotic salinity response GO:0071475 9.63 XRCC5 XRCC6
43 detection of biotic stimulus GO:0009595 9.63 NLRP3 NOD2
44 double-strand break repair via classical nonhomologous end joining GO:0097680 9.62 LIG4 XRCC6
45 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.61 ATM ATR
46 double-strand break repair via nonhomologous end joining GO:0006303 9.61 ATM DCLRE1C LIG4 NBN NHEJ1 PRKDC
47 establishment of RNA localization to telomere GO:0097694 9.6 ATM ATR
48 establishment of macromolecular complex localization to telomere GO:0097695 9.59 ATM ATR
49 V(D)J recombination GO:0033151 9.17 ATM DCLRE1C LIG1 LIG4 PRKDC RAG1
50 cellular response to DNA damage stimulus GO:0006974 10.1 ATM ATR DCLRE1C LIG1 LIG4 NBN

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

(show all 14)
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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