Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 GermlineCausalMutation ORPHANET Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 24947683

2014
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 GermlineCausalMutation ORPHANET Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570

2013