Mandibulofacial dysostosis

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
MANDIBULOFACIAL DYSOSTOSIS
C0242387MESH:D008342
EFTUD2 Causal — Disgenet
POLR1B Unknown — Disgenet
POLR1C Unknown
21131976
CTD, Disgenet
POLR1D Unknown
21131976
CTD, Disgenet
TCOF1 Unknown
16938878
CTD, Disgenet
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
443995616367MONDO:0014608OMIM:616367C4225349
EDNRA Causal
25772936 11711438 16116593 20583178 9449664
CTD, ClinVar, GWAS catalog, HPO, Orphanet, Disgenet
MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT
C4692584
ABCA4 Unknown — Disgenet
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
610536OMIM:610536
EFTUD2 Unknown — CTD, HPO
MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
C1855433MESH:C535707
POLR1C Unknown — CTD, Disgenet
MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME
79113MONDO:0012516
EFTUD2 Causal
22305528 23188108 31413053 30343593 28643921 27670155 26507355 25735261 25387991 24470203 23879989 23239648 26118977 29381487 32408545 32541334 32943010 34693919 35175019 35395430 35435265 35732499 24999515
ClinGen, ClinVar, GWAS catalog, Orphanet
All7 Causal2 Unknown6
Related Diseases Diseases that share the most curated genes with Mandibulofacial dysostosis.
5 View disease cluster →
Treacher collins syndrome 4 shared genesPOLR1C, TCOF1, POLR1D, POLR1B Related via 4 shared genes including POLR1C, TCOF1, POLR1D. Atrophic retina 1 shared geneABCA4 Related via 1 shared gene including ABCA4. ABCA4-related retinopathy 1 shared geneABCA4 Related via 1 shared gene including ABCA4. Genetic syndromic pierre robin syndrome 1 shared geneEFTUD2 Related via 1 shared gene including EFTUD2. POLR1C-related disorder 1 shared genePOLR1C Related via 1 shared gene including POLR1C.