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Disease Ontology Term: glycine encephalopathy

DO ID
DOID:9268
Description
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Synonyms
GCE, NKH, nonketotic hyperglycinemia, Non-ketotic hyperglycinemia
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Annotations

Manually Curated 4 entries for 2 genes

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GeneDisease Ontology TermQualifierEvidenceSourceAssigned OnReference
GCV3glycine encephalopathyIMPSGD2023-06-27Arribas-Carreira L, et al. (2023) PMID:36190515
GCV3glycine encephalopathyISS with GCSHSGD2023-06-27Arribas-Carreira L, et al. (2023) PMID:36190515
LIP2glycine encephalopathyISS with LIPT2SGD2021-06-08Habarou F, et al. (2017) PMID:28757203
LIP2glycine encephalopathyIMPSGD2021-06-08Habarou F, et al. (2017) PMID:28757203
Showing 1 to 4 of 4 entries

High-throughput 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Computational 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference
disease (0)