FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
Disease: Congenital aplasia of inner ear ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		0.120 GeneticVariation disease BEFREE We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. 21480479 2011
CUI: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		0.120 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: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		0.120 Biomarker disease HPO