FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917703
rs121917703
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.800 GeneticVariation UNIPROT Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799 2008
dbSNP: rs121917706
rs121917706
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.800 GeneticVariation UNIPROT Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799 2008
dbSNP: rs121917703
rs121917703
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.800 GeneticVariation 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
dbSNP: rs121917706
rs121917706
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.800 GeneticVariation 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
dbSNP: rs121917703
rs121917703
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121917706
rs121917706
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121917704
rs121917704
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.710 GeneticVariation BEFREE All individuals homozygous for p.R104X or p.R132GfsX26 had fully penetrant features of LAMM syndrome. 21306635 2011
dbSNP: rs281860303
rs281860303
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		0.710 GeneticVariation 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
dbSNP: rs121917704
rs121917704
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		A 0.710 CausalMutation CLINVAR
dbSNP: rs281860303
rs281860303
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121917705
rs121917705
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554981083
rs1554981083
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs281860300
rs281860300
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281860301
rs281860301
Entrez Id: 2248;107984368
Gene Symbol: FGF3;LOC107984368
FGF3;LOC107984368
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281860302
rs281860302
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281860304
rs281860304
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281860305
rs281860305
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs281860306
rs281860306
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281860307
rs281860307
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs782712529
rs782712529
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1384666
Disease:
hearing impairment 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs782712529
rs782712529
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
CUI: C1853144
Disease:
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		C 0.700 GeneticVariation CLINVAR