cholelithiasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). (Experimental Factor Ontology, EFO_0004799)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001081
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Genes

23 genes associated with the cholelithiasis 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
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
AIRE autoimmune regulator
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ANK1 ankyrin 1, erythrocytic
BLVRA biliverdin reductase A
BPGM 2,3-bisphosphoglycerate mutase
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DMPK dystrophia myotonica-protein kinase
FECH ferrochelatase
GPI glucose-6-phosphate isomerase
HBB hemoglobin, beta
HK1 hexokinase 1
PEX19 peroxisomal biogenesis factor 19
PFKM phosphofructokinase, muscle
PIEZO1 piezo-type mechanosensitive ion channel component 1
PKLR pyruvate kinase, liver and RBC
SEC23B Sec23 homolog B (S. cerevisiae)
TBX1 T-box 1
TPI1 triosephosphate isomerase 1
UROS uroporphyrinogen III synthase