GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: Leri pleonosteosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835450
Disease: Leri pleonosteosis
Leri pleonosteosis 		0.010 Biomarker disease BEFREE Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2. 24442880 2015