COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Acrogeria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238590
Disease: Acrogeria
Acrogeria 		0.320 AlteredExpression disease BEFREE Acrogeria with decreased gene expression of alpha1 (I) and alpha1 (III) collagen in cultured dermal fibroblasts. 15492417 2004
CUI: C0238590
Disease: Acrogeria
Acrogeria 		0.320 GermlineCausalMutation disease ORPHANET COL3A1 mutation leading to acrogeria (Gottron Type) 10819545 2000
CUI: C0238590
Disease: Acrogeria
Acrogeria 		0.320 GeneticVariation disease BEFREE COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 8881656 1996