(Q26492823)

English

mitochondrial DNA depletion syndrome 12

Human disease

MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
mitochondrial DNA depletion syndrome type 12
MTDPS12
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12
mitochondrial DNA depletion syndrome 12a

In more languages

Statements

0 references

class of disease

0 references

mitochondrial DNA depletion syndrome

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

6 references

UniProt protein ID

13 August 2019

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/10062

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10062

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151729/MONDO_0014175

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C129977

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

C129977

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_0080130

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080130

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 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)

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