Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.120 GeneticVariation disease BEFREE A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. 28229379 2017
CUI: C0086543
Disease: Cataract
Cataract 		0.120 AlteredExpression disease BEFREE Pathogenic variants in CYP27A1 cause elevated cholestanol levels in the body, which leads to a variable clinical presentation that often includes cataracts, intellectual disability, neurological features, tendon xanthomas, and chronic diarrhea. 27225395 2016
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease HPO