(Q55783898)

English

heparin cofactor 2 deficiency

human disease

HEPARIN COFACTOR II DEFICIENCY
Thrombophilia Due to Heparin Cofactor 2 Deficiency
Hcf 2 Deficiency
Hcf2 Deficiency
heparin cofactor II deficiency

In more languages

Statements

0 references

class of disease

0 references

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

4 references

Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/0888745c-f1e6-4af7-bdcd-bd229f043f07--2020-11-18T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0888745c-f1e6-4af7-bdcd-bd229f043f07-2020-11-18T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000099937/MONDO_0012876

based on heuristic

inferred from an Open Targets association score over 0.7

286.3

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0111901

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111901

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

ICD-11 (foundation)

0 references

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

UniProt disease ID

0 references

Sitelinks

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Wikinews(0 entries)

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Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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