Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy
0.020 GeneticVariation disease BEFREE TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 15564760 2005
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy
0.020 Biomarker disease BEFREE To characterize the relation of the beta ig-h3 protein to the diagnostic corneal deposits in the hereditary corneal dystrophies recently shown to have mutations in the beta ig-h3 gene on chromosome 5q31. 9930162 1999