XK, X-linked Kx blood group, 7504

N. diseases: 104; N. variants: 3
Disease: Blood group deletion syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 GeneticVariation disease BEFREE McLeod syndrome (MLS) is a rare multisystem disorder and X-linked recessive inheritance disorder caused by mutations of the X-linked Kx blood group (XK) gene. 31319236 2019
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 GeneticVariation disease UNIPROT McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. 12823753 2003
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 GeneticVariation disease UNIPROT Point mutations causing the McLeod phenotype. 11961232 2002
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND McLeod neuroacanthocytosis: genotype and phenotype. 11761473 2001
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 GeneticVariation disease UNIPROT McLeod neuroacanthocytosis: genotype and phenotype. 11761473 2001
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 AlteredExpression disease BEFREE McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. 10343080 1998
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 Biomarker disease CTD_human
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		0.720 GermlineCausalMutation disease ORPHANET