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[Preprint]. 2023 Jul 13:2023.07.13.23292612. [Version 1] doi: 10.1101/2023.07.13.23292612

Table 3. Annotation format for linking MAxO terms to diseases.

Annotations are shown for congenital myasthenic syndrome 4A (MONDO:0011600) and congenital myasthenic syndrome 4B (MONDO:0014586). Both have the same disease annotations, but medical action serotonin-norepinephrine reuptake inhibitor agent therapy (MAXO:0000214) have different relations where it is a recommended treatment (treats) 4A, but it is contraindicated (contraindicated) in 4B. The evidence code PCS corresponds to ECO:0006016 (author statement from published clinical study).

Field Example 1 (treatment) Example 2 (treatment contraindicated)
Disease ID MONDO:0011600 MONDO:0014586
Disease Name congenital myasthenic syndrome 4A congenital myasthenic syndrome 4B
MAxO ID MAXO:0000214 MAXO:0000214
MAxO label serotonin-norepinephrine reuptake inhibitor agent therapy serotonin-norepinephrine reuptake inhibitor agent therapy
Relation treats contraindicated
HPO id HP:0003473 HP:0003473
HPO label Fatigable muscle weakness Fatigable muscle weakness
Evidence code PCS PCS
Extension id CHEBI:5118 CHEBI:5118
Extension label fluoxetine fluoxetine
Source PMID:29395675 PMID:29367459
Curated by orcid:0000-0002-9353-5498 orcid:0000-0002-6889-0121
Comment Fluoxetine is a serotonin-norepinephrine reuptake inhibitor that also has been found to decrease channel-opening duration and in this study is used off-label for patients with slow-channel CMS. Fluoxetine use in patients with fast-channel CMS, in whom channel-opening duration is already too short, causes worsening of symptoms.