Disease: Corneal dystrophy, Lattice type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339273
Disease:
Corneal dystrophy, Lattice type 3 		0.040 GeneticVariation 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
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339273
Disease:
Corneal dystrophy, Lattice type 3 		0.040 GeneticVariation BEFREE No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients. 16670477 2006
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339273
Disease:
Corneal dystrophy, Lattice type 3 		0.040 GeneticVariation BEFREE We have designated this entity, which is caused by an A546D mutation in the TGFBI gene, polymorphic corneal amyloidosis. 15177960 2004
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339273
Disease:
Corneal dystrophy, Lattice type 3 		0.040 GeneticVariation 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