Bjornstad syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Bjornstad Syndrome
123262000MESH:C537633MONDO:0009872
BCS1L Unknown
17314340 24172246 24236502 25895478 28105683 28322498
Orphanet, CTD, ClinGen, GWAS catalog, HPO —
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Bjornstad syndrome.
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Neuromuscular disease 1 shared geneBCS1L Related via 1 shared gene including BCS1L. Movement disorder 1 shared geneBCS1L Related via 1 shared gene including BCS1L. Intellectual disability 1 shared geneBCS1L Related via 1 shared gene including BCS1L. Leigh syndrome 1 shared geneBCS1L Related via 1 shared gene including BCS1L. Mitochondrial complex deficiency 1 shared geneBCS1L Related via 1 shared gene including BCS1L.