Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.030 GeneticVariation BEFREE Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1B<sup>Q287*</sup>, cause a bleeding disorder characterized by a plethora of megakaryocyte and platelet abnormalities. 30655368

2019

Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.030 GeneticVariation BEFREE Other mutations have been found in the GFI1B gene in families with inherited bleeding disorders. 26447191

2015

Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
0.030 GeneticVariation BEFREE GFI1B mutation represents a novel human bleeding disorder, and the described phenotype identifies GFI1B as a critical regulator of platelet shape, number, and function. 23927492

2013