POU6F2, POU class 6 homeobox 2, 11281

N. diseases: 29; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Wilms tumor and radial bilateral aplasia
0.600 GeneticVariation disease UNIPROT Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. 11284034 2001
Wilms tumor and radial bilateral aplasia
0.600 CausalMutation disease CLINVAR
Wilms tumor and radial bilateral aplasia
0.600 Biomarker disease CTD_human
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.420 Biomarker disease BEFREE The finding of a highly regulated temporal and spatial Pou6f2 expression during renal organogenesis, of its coexpression with Wt1 and of POU6F2 overexpression in a subset of WTs are consistent with a role of POU6F2 in kidney development and provide further support to its involvement in WT. 17164647 2006
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.420 GeneticVariation disease BEFREE Together with the finding of the expression of the POU6F2 mouse homolog in both fetal and adult kidney, our observations suggest that the gene is a tumor suppressor and is involved in hereditary predisposition to WT. 15459955 2004
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.420 GeneticVariation disease LHGDN Together with the finding of the expression of the POU6F2 mouse homolog in both fetal and adult kidney, our observations suggest that the gene is a tumor suppressor and is involved in hereditary predisposition to WT. 15459955 2004
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.420 SusceptibilityMutation disease ORPHANET
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.420 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker disease CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923 2010
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0037369
Disease: Smoking
Smoking
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0040420
Disease: Tonometry
Tonometry
0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C0040420
Disease: Tonometry
Tonometry
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0026603
Disease: Motion Sickness
Motion Sickness
0.100 GeneticVariation disease GWASCAT Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. 25628336 2015
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0003076
Disease: Aniridia
Aniridia
0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever
0.100 Biomarker phenotype HPO
CUI: C0018965
Disease: Hematuria
Hematuria
0.100 Biomarker phenotype HPO