PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: WAGR Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease CTD_human