FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388 2016
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420 2015
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288 2015
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036 2014
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035 2013
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942 2013
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217 2013
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Significant phenotypic variability of Muenke syndrome in identical twins. 19449410 2009
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Brain and bone abnormalities of thanatophoric dwarfism. 19098178 2009
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 18344207 2008
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Achondroplasia. 18328977 2008
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Achondroplasia: from genotype to phenotype. 17950653 2008
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Crouzon with acanthosis nigricans. Further delineation of the syndrome. 17935505 2007
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 15241680 2004
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 12707965 2003
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Epidemiology and genetics of craniosynostosis. 10602123 2000
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 10777366 2000
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359 1999
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006 1999