|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GermlineCausalMutation |
ORPHANET |
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
|
23149434 |
2012 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
GENOMICS_ENGLAND |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CLINGEN |
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
|
14699054 |
2004 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
GENOMICS_ENGLAND |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CLINGEN |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CLINGEN |
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.
|
9811582 |
1998 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
GENOMICS_ENGLAND |
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
7647778 |
1995 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CLINGEN |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
GENOMICS_ENGLAND |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CLINGEN |
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
|
7913883 |
1994 |
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
Achondroplasia
|
1.000 |
Biomarker |
CTD_human |
|
|
|