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: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 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: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015