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Alagille syndrome
Alagille syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION
MONDO:0016862
JAG1
Causal
35761784
CTD
Endocrine resistance
Notch signaling pathway
Apelin signaling pathway
Th1 and Th2 cell differentiation
TNF signaling pathway
Human papillomavirus infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX3 regulates NOTCH signaling
NOTCH3 Activation and Transmission of Signal to the Nucleus
+12 more
ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
MONDO:0012439
NOTCH2
Causal
—
GenCC
Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Thyroid hormone signaling pathway
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
NOTCH2 intracellular domain regulates transcription
NOTCH2 Activation and Transmission of Signal to the Nucleus
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
NOTCH4 Intracellular Domain Regulates Transcription
+13 more
All
2
Causal
2
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
1
HPO
0
GWAS catalog
0
GenCC
1
ClinGen
0
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 gene
JAG1
Related via 1 shared gene including JAG1.
Hepatic ductular hypoplasia
1 shared gene
JAG1
Related via 1 shared gene including JAG1.
Acroosteolysis
1 shared gene
NOTCH2
Related via 1 shared gene including NOTCH2.
Follicular cyst
1 shared gene
NOTCH2
Related via 1 shared gene including NOTCH2.
Corneal opacity
1 shared gene
JAG1
Related via 1 shared gene including JAG1.
1
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