Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GeneticVariation 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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GermlineCausalMutation 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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GeneticVariation UNIPROT A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 Biomarker 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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 CausalMutation 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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GermlineCausalMutation ORPHANET A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 Biomarker 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
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 Biomarker GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 Biomarker CTD_human

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GeneticVariation CLINVAR