Disease table of ALAGILLE SYNDROME OMIM ID: PS118450

Gene-disease associations table

GeneAssociated with ALAGILLE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
JAG1ClinVar, OMIM, HUMSAVARHGNC link20p12.22187500, PS118450
NOTCH2ClinVar, OMIM, HUMSAVARHGNC link1p122PS118450, 102500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
JAG1YES4RUNX3, KDM4C, PPARG, SNAI20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
JAG1NOTCH2Yes2MLLT4, NOTCH1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
JAG1NOTCH2yes, they interactJACG1 interacts with NOTCH2 and NOTCH3. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Notch signaling pathwayhsa043307.122JAG1, NOTCH2

NET-GE enrichment

Term New enriched termICP valueGenes
Notch signaling pathway (hsa04330) -7.120.002JAG1, NOTCH2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
NOTCH2 Activation and Transmission of Signal to the NucleusR-HSA-29790968.592JAG1, NOTCH2
Signaling by NOTCH2R-HSA-19801457.982JAG1, NOTCH2
Signal TransductionR-HSA-1625821.782JAG1, NOTCH2
Signaling by NOTCHR-HSA-1571186.22JAG1, NOTCH2

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling by NOTCH2 (R-HSA-1980145) -7.980.001JAG1, NOTCH2
Signaling by NOTCH (R-HSA-157118) -6.20.024JAG1, NOTCH2
NOTCH2 Activation and Transmission of Signal to the Nucleus (R-HSA-2979096) -8.590.0JAG1, NOTCH2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42JAG1, NOTCH2
ion binding (GO:0043167) 1.362JAG1, NOTCH2
calcium ion binding (GO:0005509) 3.172JAG1, NOTCH2
protein binding (GO:0005515) 0.462JAG1, NOTCH2
metal ion binding (GO:0046872) 1.412JAG1, NOTCH2
binding (GO:0005488) 0.182JAG1, NOTCH2

NET-GE enrichment

Term New enriched termICP valueGenes
cell adhesion molecule binding (GO:0050839) NEW4.50.038JAG1, NOTCH2
calcium ion binding (GO:0005509) -3.170.035JAG1, NOTCH2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362JAG1, NOTCH2
anatomical structure development (GO:0048856) 1.582JAG1, NOTCH2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432JAG1, NOTCH2
regulation of primary metabolic process (GO:0080090) 1.082JAG1, NOTCH2
regulation of metabolic process (GO:0019222) 1.022JAG1, NOTCH2
regulation of cellular biosynthetic process (GO:0031326) 1.382JAG1, NOTCH2
positive regulation of response to stimulus (GO:0048584) 2.182JAG1, NOTCH2
regulation of response to stimulus (GO:0048583) 1.542JAG1, NOTCH2
tissue remodeling (GO:0048771) 5.542JAG1, NOTCH2
positive regulation of signaling (GO:0023056) 2.412JAG1, NOTCH2
heart valve morphogenesis (GO:0003179) 6.552JAG1, NOTCH2
multicellular organismal process (GO:0032501) 1.452JAG1, NOTCH2
signal transduction (GO:0007165) 1.282JAG1, NOTCH2
cell surface receptor signaling pathway (GO:0007166) 2.092JAG1, NOTCH2
regulation of signaling (GO:0023051) 1.722JAG1, NOTCH2
positive regulation of cell communication (GO:0010647) 2.412JAG1, NOTCH2
regulation of cell communication (GO:0010646) 1.732JAG1, NOTCH2
regulation of biological process (GO:0050789) 0.452JAG1, NOTCH2
single-organism process (GO:0044699) 0.482JAG1, NOTCH2
anatomical structure morphogenesis (GO:0009653) 2.532JAG1, NOTCH2
Notch signaling pathway (GO:0007219) 4.992JAG1, NOTCH2
system development (GO:0048731) 2.922JAG1, NOTCH2
cellular macromolecule metabolic process (GO:0044260) 0.932JAG1, NOTCH2
organic substance metabolic process (GO:0071704) 0.632JAG1, NOTCH2
regulation of signal transduction (GO:0009966) 1.842JAG1, NOTCH2
positive regulation of signal transduction (GO:0009967) 2.52JAG1, NOTCH2
cell fate determination (GO:0001709) 5.972JAG1, NOTCH2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462JAG1, NOTCH2
multicellular organism development (GO:0007275) 2.542JAG1, NOTCH2
regulation of developmental process (GO:0050793) 2.12JAG1, NOTCH2
animal organ development (GO:0048513) 2.532JAG1, NOTCH2
biological regulation (GO:0065007) 0.392JAG1, NOTCH2
immune effector process (GO:0002252) 3.582JAG1, NOTCH2
positive regulation of biological process (GO:0048518) 1.22JAG1, NOTCH2
negative regulation of biological process (GO:0048519) 1.332JAG1, NOTCH2
cell surface receptor signaling pathway involved in heart development (GO:0061311) 6.962JAG1, NOTCH2
regulation of gene expression (GO:0010468) 1.372JAG1, NOTCH2
Notch signaling involved in heart development (GO:0061314) 7.532JAG1, NOTCH2
regulation of cell proliferation (GO:0042127) 2.412JAG1, NOTCH2
organ morphogenesis (GO:0009887) 3.552JAG1, NOTCH2
cell differentiation (GO:0030154) 2.142JAG1, NOTCH2
primary metabolic process (GO:0044238) 0.692JAG1, NOTCH2
regulation of macromolecule metabolic process (GO:0060255) 1.082JAG1, NOTCH2
regulation of cellular metabolic process (GO:0031323) 1.072JAG1, NOTCH2
cellular process (GO:0009987) 0.262JAG1, NOTCH2
regulation of biosynthetic process (GO:0009889) 1.372JAG1, NOTCH2
tissue development (GO:0009888) 3.272JAG1, NOTCH2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552JAG1, NOTCH2
regulation of cellular process (GO:0050794) 0.52JAG1, NOTCH2
single-organism developmental process (GO:0044767) 1.492JAG1, NOTCH2
maintenance of cell number (GO:0098727) 4.822JAG1, NOTCH2
single-organism cellular process (GO:0044763) 0.652JAG1, NOTCH2
regulation of nitrogen compound metabolic process (GO:0051171) 1.362JAG1, NOTCH2
metabolic process (GO:0008152) 0.582JAG1, NOTCH2
regulation of RNA biosynthetic process (GO:2001141) 1.552JAG1, NOTCH2
hematopoietic or lymphoid organ development (GO:0048534) 4.492JAG1, NOTCH2
stem cell population maintenance (GO:0019827) 4.832JAG1, NOTCH2
nervous system development (GO:0007399) 3.532JAG1, NOTCH2
single-multicellular organism process (GO:0044707) 1.782JAG1, NOTCH2
regulation of RNA metabolic process (GO:0051252) 1.522JAG1, NOTCH2
cellular metabolic process (GO:0044237) 0.692JAG1, NOTCH2
macromolecule metabolic process (GO:0043170) 0.832JAG1, NOTCH2
immune system process (GO:0002376) 2.292JAG1, NOTCH2
regulation of transcription, DNA-templated (GO:0006355) 1.562JAG1, NOTCH2
pulmonary valve morphogenesis (GO:0003184) 7.782JAG1, NOTCH2
regulation of macromolecule biosynthetic process (GO:0010556) 1.432JAG1, NOTCH2
cellular developmental process (GO:0048869) 1.822JAG1, NOTCH2
hemopoiesis (GO:0030097) 5.072JAG1, NOTCH2
cardiac septum morphogenesis (GO:0060411) 5.92JAG1, NOTCH2
negative regulation of cellular process (GO:0048523) 1.412JAG1, NOTCH2
positive regulation of cellular process (GO:0048522) 1.32JAG1, NOTCH2

NET-GE enrichment

Term New enriched termICP valueGenes
stem cell maintenance (GO:0019827) -4.830.01JAG1, NOTCH2
Notch receptor processing (GO:0007220) NEW6.90.001JAG1, NOTCH2
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100) NEW5.120.046JAG1, NOTCH2
hematopoietic or lymphoid organ development (GO:0048534) -4.490.024JAG1, NOTCH2
cell fate determination (GO:0001709) -5.970.002JAG1, NOTCH2
pulmonary valve morphogenesis (GO:0003184) -7.780.0JAG1, NOTCH2
morphogenesis of an epithelial sheet (GO:0002011) NEW6.90.003JAG1, NOTCH2
tissue remodeling (GO:0048771) -5.540.004JAG1, NOTCH2
heart valve morphogenesis (GO:0003179) -6.550.006JAG1, NOTCH2
Notch signaling pathway (GO:0007219) -4.990.014JAG1, NOTCH2
hemopoiesis (GO:0030097) -5.070.007JAG1, NOTCH2
ciliary body morphogenesis (GO:0061073) NEW8.630.0JAG1, NOTCH2
cell surface receptor signaling pathway involved in heart development (GO:0061311) -6.960.003JAG1, NOTCH2
cardiac septum morphogenesis (GO:0060411) -5.90.002JAG1, NOTCH2
Notch signaling involved in heart development (GO:0061314) -7.530.0JAG1, NOTCH2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intrinsic component of plasma membrane (GO:0031226) 2.532JAG1, NOTCH2
integral component of membrane (GO:0016021) 1.142JAG1, NOTCH2
membrane (GO:0016020) 0.682JAG1, NOTCH2
cell part (GO:0044464) 0.112JAG1, NOTCH2
extracellular region (GO:0005576) 2.182JAG1, NOTCH2
integral component of plasma membrane (GO:0005887) 2.572JAG1, NOTCH2
plasma membrane (GO:0005886) 1.392JAG1, NOTCH2
membrane part (GO:0044425) 0.952JAG1, NOTCH2
plasma membrane part (GO:0044459) 1.952JAG1, NOTCH2
intrinsic component of membrane (GO:0031224) 1.132JAG1, NOTCH2