PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: WAGR Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. 29061165 2017
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Twenty-eight subjects with WAGR syndrome (6-28 years), 12 subjects with isolated aniridia due to PAX6 mutations/microdeletions (7-54 years), and 20 healthy controls (4-32 years) received neurocognitive assessments. 23517654 2014
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 AlteredExpression disease BEFREE Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. 24357251 2014
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 ChromosomalRearrangement disease ORPHANET The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. 23266638 2013
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. 21567907 2011
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE This segmental loss included the PAX6 and WT1 genes within the WAGR syndrome critical region. 20186791 2010
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown. 19096215 2008
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity. 15742368 2005
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR. 15779023 2005
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE One patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) had deletion of 11p and had lost the paternal PAX6 allele. 12552561 2003
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the other two had deletions whose breakpoints occurred between the PAX6 and the WT1 genes. 10737978 2000
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Gene 239FB, transcribed extensively in fetal brain, was isolated from the chromosome 11p13 region associated with mental retardation component of the WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) syndrome. 9266672 1997
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease BEFREE The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. 7527372 1994
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 GeneticVariation disease BEFREE To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearrangements with pulsed field gel (PFG) analysis using probes deleted from one chromosome 11 homolog of a WAGR patient. 2852160 1988
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease CTD_human