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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
MONDO:0007318
NOTCH2
Unknown
11171333
15307138
16773578
22209762
26858187
28776642
31343788
33077891
36201396
36447191
36458146
Disgenet
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
ALAGILLE SYNDROME 1
118450
JAG1
Unknown
35761784
HPO
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 2
610205
NOTCH2
Unknown
—
HPO
,
ClinGen
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
1
CTD
0
HPO
2
GWAS catalog
0
GenCC
0
ClinGen
1
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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