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
CUI: C1832099
Disease: Wilms tumor and radial bilateral aplasia
Wilms tumor and radial bilateral aplasia 		0.600 CausalMutation disease CLINVAR
CUI: C1832099
Disease: Wilms tumor and radial bilateral aplasia
Wilms tumor and radial bilateral aplasia 		0.600 Biomarker disease CTD_human
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.420 SusceptibilityMutation disease ORPHANET
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.420 Biomarker disease HPO
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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.100 Biomarker group HPO
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.100 Biomarker group HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 Biomarker phenotype HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		0.010 GeneticVariation disease BEFREE POU6F2 was the second most frequently mutated gene, found in three low-grade MECs with the same in-frame deletion. 27340278 2017
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		0.010 Biomarker disease BEFREE POU6F2 might play a crucial role in the development of prolactinomas and may be a promising target for developing new therapies against prolactinomas. 31692290 2019
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: 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: 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: 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: 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: 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: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018