Mitochondria Phenome Knowledgebase

Phenotypic Feature Hyperbilirubinemia finds 23 Gene-Feature associations that are associated with 23 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Hyperbilirubinemia metabolic 10407778
ACADS 201470 Hyperbilirubinemia elevated conjugated serum bilirubin; jaundice metabolic 14595061
ATP7B 277900 Hyperbilirubinemia jaundice; icterus metabolic 3595645 9160075 10745386 10864623 11060541 11454376 12211729 15368714 16381639 16416207
BCS1L 603358 Hyperbilirubinemia metabolic 7577396 9482441
CPOX 121300 Hyperbilirubinemia neonatal; jaundice; icterus; icteric skin metabolic 6886003 9454777 11739202 16159891
CPT1A 255120 Hyperbilirubinemia total bilirubin elevated; direct bilirubin elevated; jaundice metabolic 10625081 15669684
CPT2 600649 Hyperbilirubinemia metabolic 11477613
CYP27A1 213700 Hyperbilirubinemia conjugated; jaundice metabolic 12555943 14572142 15795599
DGUOK 251880 Hyperbilirubinemia icterus; jaundice; urinary bilirubin metabolic 12205643 12210798 15639197 15883261 15887277 15964659
DLAT 109720 Hyperbilirubinemia normal; elevated; jaundice metabolic 7956610 8900092 16177252
FECH 177000 Hyperbilirubinemia bilirubin elevated; jaundice metabolic 8500787 8873010 10433022 10832676 16150949 16315313
FH 606812 Hyperbilirubinemia conjugated hyperbilirubinemia metabolic 2515378
GFM1 609060 Hyperbilirubinemia metabolic 15537906
HADHA 609016 Hyperbilirubinemia bilirubin elevated; jaundice metabolic 8931405 9003853 9403664 10518281 12162610 12413376 14605499
HK1 235700 Hyperbilirubinemia variable; jaundice; scleral icterus metabolic 4027385 6848140 12211198 12393545
IVD 243500 Hyperbilirubinemia jaundice; sclerae jaundice metabolic 10191353
MPV17 256810 Hyperbilirubinemia jaundice metabolic 2300261 10518083 11431741
OTC 311250 Hyperbilirubinemia Gilberts disease; icteric sclerae metabolic 8008687 11260212
PC 266150 Hyperbilirubinemia jaundice metabolic 15781190
POLG 203700 Hyperbilirubinemia jaundice metabolic 15689359
POLG 258450 Hyperbilirubinemia bilirubin elevated metabolic 14694057
SLC25A13 605814 Hyperbilirubinemia jaundice; yellow colored stools; cholestatic jaundice metabolic 11281457 11343052 11343053 11793471 12424587 14680984 15542392
SLC25A15 238970 Hyperbilirubinemia metabolic 16376511
UROS 263700 Hyperbilirubinemia bilirubinemia metabolic 10583066 12060112 12533808

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