Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.110 GeneticVariation disease BEFREE We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. 22209248 2012
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.110 Biomarker disease HPO