Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.130 Biomarker 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
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.130 GeneticVariation disease BEFREE The frequent occurrence of developmental delay in patients with PAX6 mutation argues for a prompt diagnosis of the disease. 19898691 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.130 Biomarker disease BEFREE The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental delay in the present patient. 9415682 1997
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.130 Biomarker disease HPO