Desbuquois dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DESBUQUOIS DYSPLASIA
MONDO:0015426
CANT1 Unknown
22539336
Disgenet
FAM20B Unknown
30847897
GWAS catalog —
XYLT1 Unknown
24581741
GWAS catalog
DESBUQUOIS DYSPLASIA 1
251450C4012146MONDO:0009629
CANT1 Causal
19853239 21654728 22539336 20425819 21412251 21037275
CTD, ClinGen, ClinVar, Disgenet, HPO
XYLT1 Causal — Disgenet
DESBUQUOIS DYSPLASIA 2
615777C4014294MONDO:0014343
XYLT1 Causal
24581741 30554721 23982343 35081921
ClinVar, Disgenet, GWAS catalog, HPO
All3 Causal2 Unknown3
Related Diseases Diseases that share the most curated genes with Desbuquois dysplasia.
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Pseudoxanthoma elasticum 1 shared geneXYLT1 Related via 1 shared gene including XYLT1. Larsen syndrome 2 shared genesXYLT1, CANT1 Related via 2 shared genes including XYLT1, CANT1. Graft versus host disease 1 shared geneXYLT1 Related via 1 shared gene including XYLT1. Epiphyseal dysplasia 1 shared geneCANT1 Related via 1 shared gene including CANT1. Duchenne muscular dystrophy 1 shared geneXYLT1 Related via 1 shared gene including XYLT1.