Source: INFERRED

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 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 GeneticVariation CLINVAR