Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.120 GeneticVariation BEFREE As human patients with mutations in the fibrillin genes FBN1 and FBN2 often present with muscle weakness and atrophy as a symptom, Fbn2-null mice will be a useful model for examining this aspect of the disease process further. 20161761

2010

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.120 GeneticVariation BEFREE 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. 12700307

2003