XK, X-linked Kx blood group, 7504

N. diseases: 104; N. variants: 3
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
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.300 Biomarker disease GENOMICS_ENGLAND A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		0.300 Biomarker group CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.300 Biomarker group CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker group CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		0.300 Biomarker disease CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C0376338
Disease: Diagnosis, Psychiatric
Diagnosis, Psychiatric 		0.300 Biomarker disease CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome 		0.300 Biomarker disease CTD_human McLeod neuroacanthocytosis: genotype and phenotype. 11761473 2001
CUI: C4046029
Disease: Mental Disorders, Severe
Mental Disorders, Severe 		0.300 Biomarker disease CTD_human McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. 11261514 2001
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.300 Biomarker group CTD_human McLeod neuroacanthocytosis: genotype and phenotype. 11761473 2001
CUI: C0002735
Disease: Oppenheim's Disease
Oppenheim's Disease 		0.300 Biomarker disease CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		0.300 Biomarker group CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.300 Biomarker group CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome 		0.300 Biomarker disease CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
CUI: C0751381
Disease: Foley-Denny-Brown Syndrome
Foley-Denny-Brown Syndrome 		0.300 Biomarker disease CTD_human A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. 8619554 1996
CUI: C0002735
Disease: Oppenheim's Disease
Oppenheim's Disease 		0.300 Biomarker disease CTD_human Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. 8004674 1994