PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker disease CTD_human The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. 30221735 2018
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		1.000 Biomarker disease CTD_human
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease CTD_human
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.750 Biomarker disease CTD_human
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease CTD_human
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease CTD_human
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.700 Biomarker disease CTD_human
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		0.600 Biomarker disease CTD_human
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. 30221735 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.330 Biomarker disease CTD_human Methylation status of the 32 randomly selected and 16 potential tumor-related genes was analyzed in 10 primary gastric cancers, and 42 genes (ABHD9, ADFP, ALDH1A3, ANXA5, AREG, BDNF, BMP7, CAV1, CDH2, CLDN3, CTSL, EEF1A2, F2R, FADS1, FSD1, FST, FYN, GPR54, GREM1, IGFBP3, IGFBP7, IRS2, KISS1, MARK1, MLF1, MSX1, MTSS1, NT5E, PAX6, PLAGL1, PLAU, PPIC, RBP4, RORA, SCRN1, TBX3, TFAP2C, TNFSF9, ULBP2, WIF1, ZNF177 and ZNF559) were methylated in at least one primary gastric cancer. 16367923 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.310 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		0.300 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.300 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes. 16778180 2006
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human DNA methylation in ductal carcinoma in situ related with future development of invasive breast cancer. 26213588 2015
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.300 Biomarker group CTD_human Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations. 12721955 2003
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human Chemical genomic screening for methylation-silenced genes in gastric cancer cell lines using 5-aza-2'-deoxycytidine treatment and oligonucleotide microarray. 16367923 2006
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		0.300 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005