Disease: Amyloid of cornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.040 GeneticVariation disease BEFREE The lattice phenotype resulting from the TGFBI A546D mutation in this family is distinct from that observed in a previously described pedigree carrying the A546D mutation and exhibiting a phenotype designated "polymorphic corneal amyloidosis". 17893671 2007
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.040 GeneticVariation disease BEFREE TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis. 17982422 2007
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.040 GeneticVariation disease BEFREE Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis. 15111592 2004
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.040 GeneticVariation disease BEFREE Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. 15177960 2004