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: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 GeneticVariation disease UNIPROT A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 Biomarker disease GENOMICS_ENGLAND A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 GermlineCausalMutation disease ORPHANET A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 Biomarker disease GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188 1996
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 Biomarker disease CTD_human
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 GeneticVariation disease CLINVAR