FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 9 0.800 None 1.000 15 9 1996 2018