Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. 12707965

2003
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon. 11055896

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT 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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia. 10215410

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation UNIPROT We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia. 7670477

1995