Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.530 GeneticVariation ORPHANET Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.530 GeneticVariation ORPHANET P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. 9338588

1997
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.530 GeneticVariation ORPHANET While it remains unclear whether these mutations are sufficient for the clinical expression of the entire SGS phenotype, these data suggest a role for fibrillin-1 in early craniofacial and central nervous system development. 8563763

1996