FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Modeling human early otic sensory cell development with induced pluripotent stem cells. 29902227 2018
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Spatial and temporal inhibition of FGFR2b ligands reveals continuous requirements and novel targets in mouse inner ear morphogenesis. 30504125 2018
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Fgf3 and Fgf16 expression patterns define spatial and temporal domains in the developing chick inner ear. 26995070 2017
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease BEFREE LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 21480479 2011
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 21480479 2011
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease GENOMICS_ENGLAND LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 21480479 2011
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease BEFREE Molecular modeling result suggests a less drastic effect of p.R95W on FGF3 function compared with known missense mutations detected in fully penetrant LAMM syndrome. 21306635 2011
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Molecular modeling result suggests a less drastic effect of p.R95W on FGF3 function compared with known missense mutations detected in fully penetrant LAMM syndrome. 21306635 2011
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). 18701883 2009
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease UNIPROT Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799 2008
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease BEFREE Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799 2008
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799 2008
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN 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
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease UNIPROT 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
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CLINGEN Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. 8223243 1993
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease GENOMICS_ENGLAND Potential oncogene product related to growth factors. 3574458 1987
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 CausalMutation disease CLINVAR
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 Biomarker disease CTD_human
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.730 GeneticVariation disease CLINVAR