PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 GeneticVariation group BEFREE We expand the known phenotype associated with mutations in PAX2 to include brain malformations. 10533062 1999