GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: SYMPHALANGISM, PROXIMAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GeneticVariation disease BEFREE Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism. 29371961 2017
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GeneticVariation disease BEFREE Cushing proximal symphalangism and the NOG and GDF5 genes. 17994231 2008
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GermlineCausalMutation disease ORPHANET Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1). 18283415 2008
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GeneticVariation disease BEFREE Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1). 18283415 2008
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GermlineCausalMutation disease ORPHANET A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families. 16892395 2006
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 GeneticVariation disease BEFREE Mutations in the GDF inhibitor Noggin (NOG) or activating mutations in GDF5 cause proximal symphalangism (SYM1). 16957682 2006
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.440 Biomarker disease HPO