PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: Posterior subcapsular cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GeneticVariation disease BEFREE A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract. 30894134 2019
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation disease ORPHANET A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. 21633712 2011
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation disease ORPHANET The PITX3 gene in posterior polar congenital cataract in Australia. 16636655 2006