FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Columnar Cell Change of the Breast ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast 		0.010 Biomarker phenotype BEFREE The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). 16207213 2005