jaundice Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. (Human Phenotype Ontology, HP_0000952)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000952
Similar Terms
Downloads & Tools

Genes

66 genes associated with the jaundice 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
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AKR1D1 aldo-keto reductase family 1, member D1
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BPGM 2,3-bisphosphoglycerate mutase
C15ORF41 chromosome 15 open reading frame 41
CDAN1 codanin 1
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLDN1 claudin 1
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPOX coproporphyrinogen oxidase
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DGUOK deoxyguanosine kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
G6PD glucose-6-phosphate dehydrogenase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GPI glucose-6-phosphate isomerase
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HK1 hexokinase 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
JAG1 jagged 1
KRT18 keratin 18, type I
KRT8 keratin 8, type II
LBR lamin B receptor
LPL lipoprotein lipase
LYST lysosomal trafficking regulator
MPV17 MpV17 mitochondrial inner membrane protein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
OCLN occludin
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PFKM phosphofructokinase, muscle
PIEZO1 piezo-type mechanosensitive ion channel component 1
PKLR pyruvate kinase, liver and RBC
POU1F1 POU class 1 homeobox 1
PRF1 perforin 1 (pore forming protein)
RHAG Rh-associated glycoprotein
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SEC23B Sec23 homolog B (S. cerevisiae)
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
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPTB spectrin, beta, erythrocytic
TPI1 triosephosphate isomerase 1
TREX1 three prime repair exonuclease 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TTC37 tetratricopeptide repeat domain 37
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)