STAB2, stabilin 2, 55576

N. diseases: 22; N. variants: 11
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 GeneticVariation disease BEFREE Genetic inactivation of hepatic angiocrine Bmp2 signaling in Stab2-Cre;Bmp2<sup>fl/fl</sup> (Bmp2<sup>LSECKO</sup>) mice caused massive iron overload in the liver and increased serum iron levels and iron deposition in several organs similar to classic hereditary hemochromatosis. 27903529 2017