COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406584
Disease: Acrogeria, gottron type
Acrogeria, gottron type
0.300 GermlineCausalMutation disease ORPHANET COL3A1 mutation leading to acrogeria (Gottron Type) 10819545 2000