(Q55784573)

English

severe combined immunodeficiency due to CARD11 deficiency

human disease

Immunodeficiency type 11
SCID due to CARD11 deficiency
IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11; IMD11
IMD11
Card11 Immunodeficiency

In more languages

default for all languages

No label defined

No description defined

Statements

0 references

class of disease

0 references

T+ B+ severe combined immunodeficiency

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

4 references

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

18 April 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ce06b6f-cf7f-43f3-bf9c-5d3978f1db61-2022-03-15T131409.712Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000198286/MONDO_0014081

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_357237

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q55784573&oldid=2087409328"