Disease: Xerocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 AlteredExpression disease BEFREE However, conferral of wild-type cation contents on HX red cells failed to restore wild-type-stimulated KCNN4 activity to those HX cells. 31091145 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 Biomarker disease BEFREE Recently, mutations at two different aminoacid residues in KCNN4 have been reported in patients with hereditary xerocytosis. 28496185 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 GeneticVariation disease BEFREE Similarly, the KCNN4 gene, codifying the so called Gardos channel, has been recently identified as a second causative gene of hereditary xerocytosis. 27756835 2016
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 GeneticVariation disease BEFREE Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. 26198474 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 GeneticVariation disease BEFREE We present here, in the second report of DHSt associated with KCNN4 mutations, two previously undiagnosed DHSt families. 26178367 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 Biomarker disease GENOMICS_ENGLAND A mutation in the Gardos channel is associated with hereditary xerocytosis. 26148990 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 GermlineCausalMutation disease ORPHANET A mutation in the Gardos channel is associated with hereditary xerocytosis. 26148990 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 GermlineCausalMutation disease ORPHANET Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. 26198474 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.650 Biomarker disease CTD_human