hyperbilirubinemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. (Human Disease Ontology, DOID_2741)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002904
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Genes

36 genes associated with the hyperbilirubinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ADK adenosine kinase
AKR1D1 aldo-keto reductase family 1, member D1
ALDOB aldolase B, fructose-bisphosphate
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CPT2 carnitine palmitoyltransferase 2
DGUOK deoxyguanosine kinase
G6PD glucose-6-phosphate dehydrogenase
GPX1 glutathione peroxidase 1
HK1 hexokinase 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
KLF1 Kruppel-like factor 1 (erythroid)
LBR lamin B receptor
PAX8 paired box 8
PEX19 peroxisomal biogenesis factor 19
PFKM phosphofructokinase, muscle
PKLR pyruvate kinase, liver and RBC
PRF1 perforin 1 (pore forming protein)
PRKCSH protein kinase C substrate 80K-H
RFX6 regulatory factor X, 6
RHAG Rh-associated glycoprotein
SC5D sterol-C5-desaturase
SEC63 SEC63 homolog (S. cerevisiae)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SPTB spectrin, beta, erythrocytic
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)