Alagille Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. (Human Disease Ontology, DOID_9245)
External Link https://www.disgenet.org/browser/0/1/0/C1857761
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Genes

34 genes associated with the disease Alagille Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
APOE apolipoprotein E
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BMP2 bone morphogenetic protein 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CD46 CD46 molecule, complement regulatory protein
CTSZ cathepsin Z
DRD2 dopamine receptor D2
EGF epidermal growth factor
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
JAG1 jagged 1
LMNA lamin A/C
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
MME membrane metallo-endopeptidase
MPDZ multiple PDZ domain protein
NAAA N-acylethanolamine acid amidase
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
OSR1 odd-skipped related transciption factor 1
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SNAP25 synaptosomal-associated protein, 25kDa
SOX9 SRY (sex determining region Y)-box 9
TBX1 T-box 1
WNT1 wingless-type MMTV integration site family, member 1
ZNF133 zinc finger protein 133