LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Scleroderma ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.410 GeneticVariation disease BEFREE Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191 2009