FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). 18435799 2008
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation disease BEFREE Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 17236138 2007