RHAG, Rh associated glycoprotein, 6005

N. diseases: 41; N. variants: 13
Disease: stomatocytic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 Biomarker disease GENOMICS_ENGLAND The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. 18931342 2009
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 Biomarker disease GENOMICS_ENGLAND Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. 9716608 1998
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 Biomarker disease HPO