(Q6458655)

English

DNA ligase IV deficiency

Human disease

LIG4 Syndrome
Ligase 4 syndrome

In more languages

Statements

genetic disease

0 references

0 references

class of disease

0 references

combined immunodeficiency

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

polymalformative genetic syndrome with increased risk of developing cancer

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inherited tumor

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

non-severe combined immunodeficiency

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

5 references

UniProt protein ID

13 August 2019

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec863c8-d668-4ebf-806e-e01f5a6407fe-2021-04-16T230148.883Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000174405/MONDO_0011686

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000174405/Orphanet_99812

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

primary immunodeficiency disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

NCI Thesaurus ID

C122657

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0060021

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060021

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_99812

0 references

Commons category

LIG4 syndrome

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:LIG4 syndrome

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