PCDH11X, protocadherin 11 X-linked, 27328

N. diseases: 18; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 GeneticVariation disease GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 Biomarker disease BEFREE Protocadherin 11X (Pcdh11X) has been suspected to be associated with Alzheimer's disease through participating in the metabolism of PP1α and β-catenin or by altering the synaptic functions. 20707987 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 GeneticVariation disease LHGDN Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 GeneticVariation disease GWASCAT Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.420 GeneticVariation disease GWASDB Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 GeneticVariation disease BEFREE Our data were in agreement with recent reports that failed to confirm the association between PCDH11X polymorphisms and LOAD, and extended the lack of association to common PCDH11Y variants. 21276771 2011
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 GeneticVariation disease BEFREE Although we had adequate power to detect effect sizes with the reported odds ratios, we did not detect association between late-onset Alzheimer disease and the PCDH11X polymorphisms in our dataset of 889 cases and 850 controls, indicating that the PCDH11X association, if not a false positive, is not as strong or generalized as hypothesized earlier. 20523261 2010
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 GeneticVariation disease BEFREE A recent genome-wide study on late-onset Alzheimer's disease identified a SNP (rs5984894) on Xq21.3 in the PCDH11X gene strongly associated with LOAD individuals of European descent from the United States. 20555150 2010
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 GeneticVariation disease BEFREE Our results failed to find any significant association between the tested SNP and LOAD, indicating that PCDH11X gene polymorphism does not play a major role in the genetic predisposition to LOAD in this Han Chinese population. 20707987 2010
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.350 GeneticVariation disease BEFREE Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.300 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.300 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.100 GeneticVariation disease GWASDB Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 19483682 2009
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.010 GeneticVariation group BEFREE Recently, a genetic mutation of protocadherin-11X/Y was reported to be associated with a language development disorder. 23527036 2013
CUI: C0476254
Disease: Dyslexia
Dyslexia 		0.010 AlteredExpression disease BEFREE PCDH11X, expressed in brain is implicated in cell-cell communication, verbal ability, cerebral asymmetry, and dendritic synaptic plasticity, may be regarded as a new candidate gene for dyslexia. 24591081 2013
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.010 Biomarker disease BEFREE Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia. 24591081 2013
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 GeneticVariation disease BEFREE Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8). 21685710 2011
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 GeneticVariation group BEFREE Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8). 21685710 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 GeneticVariation disease BEFREE Moreover, CNVs in two genes on the Xq21.3 locus (i.e., PCDH11X and TGIF2LX) were statistically significantly associated with the POI phenotype. 21316664 2011