ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.120 Biomarker disease BEFREE In this respect ATP8B1 is an interesting candidate due to its strong expression in the pancreas, its supposed general function in membrane organization and the higher incidence of pancreatitis in patients with ATP8B1 deficiency. 24260417 2013
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.120 GeneticVariation disease BEFREE Patients with posttransplant steatosis typically had more severe mutations of the ATPase class I type 8B member 1 (ATP8B1) gene and were more likely to have systemic complications such as pancreatitis. 19479804 2009
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.120 Biomarker disease HPO