Alagille syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ALAGILLE SYNDROME
MONDO:0007318
NOTCH2 Unknown
11171333 15307138 16773578 22209762 26858187 28776642 31343788 33077891 36201396 36447191 36458146
Disgenet
ALAGILLE SYNDROME 1
118450
JAG1 Unknown
35761784
HPO
ALAGILLE SYNDROME 2
610205
NOTCH2 Unknown — HPO, ClinGen
ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION
MONDO:0016862
JAG1 Causal
35761784
CTD
ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
MONDO:0012439
NOTCH2 Causal — GenCC
All2 Causal2 Unknown2
Related Diseases Diseases that share the most curated genes with Alagille syndrome.
5 View disease cluster →
Deafness with congenital heart defects and posterior embryotoxon 1 shared geneJAG1 Related via 1 shared gene including JAG1. Hepatic ductular hypoplasia 1 shared geneJAG1 Related via 1 shared gene including JAG1. Acroosteolysis 1 shared geneNOTCH2 Related via 1 shared gene including NOTCH2. Follicular cyst 1 shared geneNOTCH2 Related via 1 shared gene including NOTCH2. Corneal opacity 1 shared geneJAG1 Related via 1 shared gene including JAG1.