Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ocular coloboma (disorder)
0.120 GeneticVariation disease BEFREE Probable portal hypertension was also more prevalent in patients with kidney disease (P = 0.001) and colobomas (P = 0.02), as well as mutations in the TMEM67 gene (P = 0.001). 29112083 2018
Congenital ocular coloboma (disorder)
0.120 Biomarker disease BEFREE Loss of CEP290 function is associated with retinal dystrophy, while loss of TMEM67 function is associated with liver fibrosis and coloboma, but we observe no clear-cut distinction between JS subtypes. 26092869 2015
Congenital ocular coloboma (disorder)
0.120 GeneticVariation disease CLINVAR
Congenital ocular coloboma (disorder)
0.120 Biomarker disease HPO