Mitochondria Phenome Knowledgebase

Phenotypic Feature Hemochromatosis finds 11 Gene-Feature associations that are associated with 11 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALAS2 301300 Hemochromatosis hemosiderosis; iron deposition; liver stainable iron metabolic 7560104 7949148 10029606 11110715 15477213 16540354
BCS1L 124000 Hemochromatosis hemosiderosis; liver; hepatosiderosis; aggregates of macrophages; Kupffer cells metabolic 12910490
BCS1L 603358 Hemochromatosis iron overload; hemosiderosis; liver; transferrin abnormal metabolic 9482441 12027811 12215968
CPOX 121300 Hemochromatosis hemosiderosis; liver metabolic 9454777
CYBA 233690 Hemochromatosis hemosiderosis; lung; pulmonary bleeding metabolic 16157492
DGUOK 251880 Hemochromatosis liver; hepatosiderosis; iron accumulation; Kuppfer cells; hepatocytes iron overload; neonatal hemochromatosis metabolic 15964659
FXN 229300 Hemochromatosis iron deposits; heart; liver; spleen; neurons metabolic 9326946 10767311
HK1 235700 Hemochromatosis liver; iron storage metabolic 6848140 12393545
PANK2 234200 Hemochromatosis iron accumulation; globus pallidus abnormal; eye of the tiger; iron deposits; nucleus caudatus abnormal; substantia nigra abnormal; basal ganglia abnormal metabolic 12510040 12697433 12811783 15465096 16240131 16437574 16450344
PANK2 607236 Hemochromatosis iron deposits; globus pallidus; nucleus caudatus; substantia nigra metabolic 1734303 12058097 14638969
PC 266150 Hemochromatosis iron overload; hemosiderosis; liver metabolic 10323732
PUS1 600462 Hemochromatosis secundary hemochromatosis metabolic 14981724
SLC25A13 603471 Hemochromatosis hemosiderosis; moderate hemosiderosis metabolic 16278034
SLC25A13 605814 Hemochromatosis iron depositions; hepatocytes abnormal; Kupffer cells abnormal metabolic 11343052

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons