Acrofacial dysostosis

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ACROFACIAL DYSOSTOSIS RODRIGUEZ TYPE
MONDO:0008714
SF3B4 Unknown
27642715
HPO
ACROFACIAL DYSOSTOSIS, WEYERS TYPE
MONDO:0008673
EVC Unknown
21815252 12468274 14217223 7628126 7218275 10700184 12571802
CTD
EVC2 Unknown
16404586
GWAS catalog, ClinGen
All4 Causal1 Unknown3
Related Diseases Diseases that share the most curated genes with Acrofacial dysostosis.
5 View disease cluster →
Curry-hall syndrome 2 shared genesEVC, EVC2 Related via 2 shared genes including EVC, EVC2. Weyers acrofacial dysostosis 2 shared genesEVC, EVC2 Related via 2 shared genes including EVC, EVC2. SF3B4-related acrofacial dysostosis 1 shared geneSF3B4 Related via 1 shared gene including SF3B4. Burn-mckeown syndrome 1 shared genePOLR1A Related via 1 shared gene including POLR1A. Ellis-van creveld syndrome 2 shared genesEVC, EVC2 Related via 2 shared genes including EVC, EVC2.