PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 CausalMutation disease CLINVAR [Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 27455012 2016
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR [Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 27455012 2016
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 GeneticVariation disease BEFREE WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. 17935232 2007
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.200 GeneticVariation disease BEFREE WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. 17935232 2007
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.100 GeneticVariation disease BEFREE WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. 17935232 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 AlteredExpression disease BEFREE Within the WAGR group, BDNF+/- subjects (n = 15), compared with BDNF intact (+/+) subjects (n = 13), had lower adaptive behaviour (p = .02), reduced cognitive functioning (p = .04), higher levels of reported historical (p = .02) and current (p = .02) social impairment, and higher percentage meeting cut-off score for autism (p = .047) on Autism Diagnostic Interview-Revised. 23517654 2014
CUI: C0235270
Disease: Keratopathy
Keratopathy 		0.060 Biomarker disease BEFREE With this approach, we expected that the genes directly influenced by PAX6 would be distinguishable from those affected secondarily by the ARK disease state. 30292490 2019
CUI: C4024960
Disease: Unilateral polymicrogyria
Unilateral polymicrogyria 		0.010 GeneticVariation disease BEFREE With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria. 12731001 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. 15779010 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation disease BEFREE Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. 15779010 2005
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group 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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 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 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 GeneticVariation 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group 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: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation 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: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.010 GeneticVariation disease BEFREE While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M. 26130484 2016
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.200 GeneticVariation disease BEFREE When deletion involves its adjacent genes, i.e., those in the PAX6-WT1 critical region (WTCR), patients are predisposed to Wilms tumor. 11920832 2002
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.100 GeneticVariation disease BEFREE When deletion involves its adjacent genes, i.e., those in the PAX6-WT1 critical region (WTCR), patients are predisposed to Wilms tumor. 11920832 2002
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 GeneticVariation disease BEFREE We used magnetic resonance imaging (MRI) to show that individuals with aniridia and deficits in executive and social cognition, due to heterozygous mutation of the neurodevelopmental control gene PAX6, have structural abnormalities of grey matter in anterior cingulate cortex, cerebellum and medial temporal lobe, as well as white matter deficits in corpus callosum. 15066147 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 PosttranslationalModification disease BEFREE We used immunostaining, RT-PCR, and Western blotting assays to show the expression status of PAX6 in prostate tissue and human prostate cancer cell lines. 19790232 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 PosttranslationalModification disease BEFREE We used immunostaining, RT-PCR, and Western blotting assays to show the expression status of PAX6 in prostate tissue and human prostate cancer cell lines. 19790232 2010
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		0.030 GeneticVariation disease BEFREE We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations. 8162071 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.100 AlteredExpression disease BEFREE We studied the response of two retinoblastoma cell lines to CN-A with respect to cell growth, apoptosis, morphology, mRNA, protein expression analysis of specific genes (N-myc, cyclin-dependent kinase inhibitor 1A [P21], paired box gene 6 [PAX6], and rhodopsin [RHO]), and activity of three PAX6 promoters (P0, P1, and Palpha). 20577596 2010