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PMM2
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Body Atlas
Most Correlated Tissues
Basophil of peripheral blood
Parotid gland
Natural killer cell of peripheral blood
Plasma cell of spleen
Neutrophil of bone marrow
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Disease Atlas
Most Correlated Diseases
Carbohydrate-deficient glycoprotein syndrome
Disorder of intraocular pressure
Disease caused by rickettsiae
Abnormal gravitational state
Ulceration of intestine
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Pharmaco Atlas
Most Correlated Compounds
Verapamil
Piracetam
nabumetone
Phenelzine
Cephalexin
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Knockdown Atlas
Most Correlated Gene Perturbations
MIR642A
DROSHA
IGH
TSC22D3
ADORA2B
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Curated Studies
Most Correlated Studies
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Literature
Most Relevant Literature
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the us…
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protei…
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygot…
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
From multi-omics data to the cancer druggable gene discovery: a novel machine learning-based approac…
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Clinical Trials
Most Relevant Clinical Trials
Acetazolamide Efficacy in Ataxia in PMM2-CDG
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG
24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Adults With PMM2-CDG
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
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