Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423062
Disease: Intermittent divergent squint
Intermittent divergent squint
0.010 GeneticVariation disease BEFREE We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2. 29575628 2018