(Q7263591)

28 July 2018

disorder of pyridoxine metabolism

1 reference

28 July 2018

rare genetic epilepsy

1 reference

28 July 2018

metabolic neurotransmission anomaly with epilepsy

1 reference

28 July 2018

autosomal recessive disease

1 reference

30 November 2020

5 references

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

30 April 2020

https://search.clinicalgenome.org/kb/gene-validity/7a982307-d8bd-43d1-b356-ef7ee6f32045--2019-07-26T17:09:04

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/7a982307-d8bd-43d1-b356-ef7ee6f32045--2019-07-26T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a982307-d8bd-43d1-b356-ef7ee6f32045-2019-07-26T160000.000Z

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000164904/MONDO_0009945

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

PLPBP

1 reference

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000147471/MONDO_0009945

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_3006

0 references

http://purl.obolibrary.org/obo/DOID_0080768

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0080768

1 reference

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

Identifiers.org

reference URL

Identifiers

MeSH descriptor ID

C536254

1 reference

imported from Wikimedia project

28 July 2018

0 references

1 reference

30 November 2020

1 reference

1 reference

28 July 2018

Genetics Home Reference Conditions ID

pyridoxine-dependent-epilepsy

0 references

ICD-10-CM

G40.8

1 reference

28 July 2018

0 references

8A61.00

Pyridoxal dependent epilepsy

0 references

Microsoft Academic ID

0 references

0 references

imported from Wikimedia project

2 references

English Wikipedia

28 July 2018

1 reference

28 July 2018

1 reference

28 July 2018

1 reference