Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GermlineCausalMutation ORPHANET Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2012