Source: CLINVAR

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 CLINVAR

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