PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: Neurologic Dysfunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		0.300 Biomarker phenotype CTD_human Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 16565358 2006