Congenital myasthenic syndrome 17

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Subtype of: Congenital myasthenic syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
congenital myasthenic syndrome 17
MONDO_0018940
LRP4 Causal
24234652
ClinGen, Open Targets —
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Congenital myasthenic syndrome 17.
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Cenani-lenz syndrome 1 shared geneLRP4 Related via 1 shared gene including LRP4. Sclerosteosis 1 shared geneLRP4 Related via 1 shared gene including LRP4. Maffucci syndrome 1 shared geneLRP4 Related via 1 shared gene including LRP4. Tooth abnormalities 1 shared geneLRP4 Related via 1 shared gene including LRP4. Postsynaptic congenital myasthenic syndrome 1 shared geneLRP4 Related via 1 shared gene including LRP4.