GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Chondrodysplasia, Grebe type ×
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: rs74315387
rs74315387 		1.000 0.080 20 35434216 stop gained C/T snv
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 1997 1997
dbSNP: rs1568731526
rs1568731526 		1.000 0.080 20 35434271 frameshift variant C/- delins
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2003 2003