PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: Irido-corneo-trabecular dysgenesis (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894175
rs104894175 		0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018