FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.110 GeneticVariation disease BEFREE Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763 1996
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.110 Biomarker disease HPO