(Q6583504)

English

Ribose-5-phosphate isomerase deficiency

human disease

Ribose-5-P isomerase deficiency
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY

In more languages

Statements

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class of disease

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nervous system heredodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000153574/MONDO_0012073

based on heuristic

inferred from an Open Targets association score over 0.7

277.6

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

http://www.orpha.net/ORDO/Orphanet_440706

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Microsoft Academic ID

0 references

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(5 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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