Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 GeneticVariation disease BEFREE Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. 27139183 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 GermlineCausalMutation disease ORPHANET A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 GeneticVariation disease UNIPROT A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 Biomarker disease GENOMICS_ENGLAND A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 GermlineCausalMutation disease ORPHANET A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 Biomarker disease CTD_human
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.710 GeneticVariation disease CLINVAR