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: 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 GermlineCausalMutation ORPHANET A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006