Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract
0.110 GeneticVariation disease BEFREE Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations. 25475713 2015
CUI: C0086543
Disease: Cataract
Cataract
0.110 Biomarker disease HPO