GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Fibular hypoplasia and complex brachydactyly ×
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: rs121909350
rs121909350 		1.000 0.080 20 35434282 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2002 2008
dbSNP: rs121909351
rs121909351 		1.000 0.080 20 35434109 missense variant G/T snv
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2002 2008
dbSNP: rs28936683
rs28936683 		0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0