(Q55010195)

English

myofibrillar myopathy 8

human disease

MFM8
Myopathy, Myofibrillar, 8
Myopathy, Myofibrillar, type 8

In more languages

Statements

0 references

class of disease

0 references

myofibrillar myopathy

1 reference

Disease Ontology

30 November 2020

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

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/44f4197c-2004-4d10-81dc-e61190eba909--2019-11-05T13:47:31

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4197c-2004-4d10-81dc-e61190eba909-2019-11-05T134731.947Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000121350/MONDO_0014993

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0080308

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080308

2 references

Disease Ontology

10 July 2020

Disease Ontology ID

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

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

UniProt disease ID

0 references

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)

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