(Q55782094)

English

brain demyelination due to methionine adenosyltransferase deficiency

No description defined

Methionine adenosyltransferase deficiency
Isolated Persistent Hypermethioninemia
Hypermethioninemia, Isolated Persistent
Mat I/Iii Deficiency
Mat Deficiency

In more languages

Statements

class of disease

0 references

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

sulfuraminoacidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

5 references

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/35cff382-98fe-4103-8edc-101f0c565a9e--2019-09-13T12:57:23

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/35cff382-98fe-4103-8edc-101f0c565a9e--2019-09-13T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35cff382-98fe-4103-8edc-101f0c565a9e-2019-09-13T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151224/MONDO_0009607

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151224/Orphanet_168598

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C123435

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_168598

0 references

Identifiers

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common NCI thesaurus ID mappings on source and on Wikidata

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

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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