(Q55783394)

English

familial infantile myoclonic epilepsy

human disease

Familial infantile myoclonus epilepsy
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
FIME
Eim
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME

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No label defined

No description defined

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

monogenic disease with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000162065/MONDO_0011506

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_352582

0 references

Identifiers

0 references

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

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