Otofaciocervical syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
OTOFACIOCERVICAL SYNDROME 1
166780C3714941MONDO:0024532
EYA1 Causal
16441263 11409867 12404110 18177466 9006082 2773990 11703923 15479196 18220287 15226428 9020840 15146463 19206155 10991693 9361030 14628042 14628052 11734542 9359046 23840632 10655545 16990542 5365063 14517553 9603436 9342347 10072433 14628053 10471511
ClinVar, Disgenet, HPO
OTOFACIOCERVICAL SYNDROME 2
C3714942MONDO:0014254
PAX1 Causal
23851939 2453291 26284228 28657137 29681087 32111619 35595062 35879406 37689091 37924468 8565834
ClinGen, ClinVar, Disgenet, GWAS catalog —
All2 Causal2 Unknown2
Related Diseases Diseases that share the most curated genes with Otofaciocervical syndrome.
5 View disease cluster →
Asymmetric crying face association 1 shared geneEYA1 Related via 1 shared gene including EYA1. Cayler cardiofacial syndrome 1 shared geneEYA1 Related via 1 shared gene including EYA1. Branchiooculofacial syndrome 1 shared geneEYA1 Related via 1 shared gene including EYA1. Branchiootic syndrome 1 shared geneEYA1 Related via 1 shared gene including EYA1. Branchiootorenal syndrome 2 shared genesEYA1, PAX1 Related via 2 shared genes including EYA1, PAX1.