Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272051
Disease: Xerocytosis
Xerocytosis
0.300 GermlineCausalMutation disease ORPHANET Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005