FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease CLINGEN Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. 9811582 1998
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease CLINGEN Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease CLINGEN Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. 14699054 2004
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease CLINGEN Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. 7913883 1994
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease CLINGEN A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283 1999
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease GENOMICS_ENGLAND A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283 1999
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409 2010