Craniofrontonasal dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CRANIOFRONTONASAL DYSPLASIA
C0220767MESH:C5364561520
EDA Unknown
17941886
CTD, Disgenet
EFNB1 Unknown
15124102 15166289 16639408 16685650 17941886 18043713 15959873
CTD, Disgenet, Orphanet
OPHN1 Unknown
17941886
CTD, Disgenet
PJA1 Unknown
17941886
CTD, Disgenet
CRANIOFRONTONASAL SYNDROME
304110MONDO:0010570
EFNB1 Causal
23335590 15166289 15124102 16685650
ClinGen, ClinVar, GenCC, HPO
All4 Causal1 Unknown4
Related Diseases Diseases that share the most curated genes with Craniofrontonasal dysplasia.
5 View disease cluster →
Anhidrotic ectodermal dysplasia 1 shared geneEDA Related via 1 shared gene including EDA. X-linked intellectual disability-cerebellar hypoplasia syndrome 1 shared geneOPHN1 Related via 1 shared gene including OPHN1. X-linked hypohidrotic ectodermal dysplasia 1 shared geneEDA Related via 1 shared gene including EDA. Dysphoric mood 1 shared geneEFNB1 Related via 1 shared gene including EFNB1. Christ-siemens-touraine syndrome 1 shared geneEDA Related via 1 shared gene including EDA.