GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Brachydactyly type C ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909348
rs121909348 		1.000 0.080 20 35433954 stop gained A/C snv
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0