exostoses, multiple, type 1

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
exostoses, multiple, type 1
EXT1 Causal
27604308
ClinGen
All1 Causal1 Unknown0
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Trichorhinophalangeal syndrome 1 shared geneEXT1 Related via 1 shared gene including EXT1. Chondrosarcoma 1 shared geneEXT1 Related via 1 shared gene including EXT1. Exostoses 1 shared geneEXT1 Related via 1 shared gene including EXT1. Partial epilepsy 1 shared geneEXT1 Related via 1 shared gene including EXT1. Generalized epilepsy 1 shared geneEXT1 Related via 1 shared gene including EXT1.