abnormal circulating bilirubin level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration in the blood of the bile pigment bilirubin, normally found in the liver and in red blood cells (Mammalian Phenotype Ontology, MP_0001569)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001569
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Genes

51 gene mutations causing the abnormal circulating bilirubin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ADD2 adducin 2 (beta)
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ANK1 ankyrin 1, erythrocytic
ATP11C ATPase, class VI, type 11C
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
C3 complement component 3
C5AR2 complement component 5a receptor 2
CBX6 chromobox homolog 6
CHD7 chromodomain helicase DNA binding protein 7
CMTM6 CKLF-like MARVEL transmembrane domain containing 6
DEGS1 delta(4)-desaturase, sphingolipid 1
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FBXO7 F-box protein 7
FECH ferrochelatase
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GPI glucose-6-phosphate isomerase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HK1 hexokinase 1
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
IL2 interleukin 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
LAMA4 laminin, alpha 4
LDHA lactate dehydrogenase A
NFE2L2 nuclear factor, erythroid 2-like 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
PFKM phosphofructokinase, muscle
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITPNA phosphatidylinositol transfer protein, alpha
PKLR pyruvate kinase, liver and RBC
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PSPH phosphoserine phosphatase
RASA3 RAS p21 protein activator 3
RDX radixin
SIK3 SIK family kinase 3
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SPNS2 spinster homolog 2 (Drosophila)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
UNC93B1 unc-93 homolog B1 (C. elegans)
WWOX WW domain containing oxidoreductase
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC13 zinc finger, DHHC-type containing 13