ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Lattice corneal dystrophy Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		0.040 Biomarker disease BEFREE Together, these conformational changes are critical for actin filament severing, and we suggest that their absence leads to the disease Finnish-type familial amyloidosis. 15215896 2004
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		0.040 GeneticVariation disease BEFREE Hereditary gelsolin-related amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T mutation in the gene coding for gelsolin, an actin-modulating protein. 10744159 2000
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		0.040 AlteredExpression disease BEFREE Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. 8243656 1993
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		0.040 Biomarker disease BEFREE Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. 2157434 1990