AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
Disease: Cholemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008352
Disease: Cholemia
Cholemia 		0.010 Biomarker disease BEFREE It is concluded that this form of compound heterozygosity of the BSEP gene reduces the amount of BSEP protein due to protein instability or mis-targeting, which is the underlying reason for reduced bile salt excretion and cholemia. 16394881 2006