GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: SYMPHALANGISM, PROXIMAL, 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 GeneticVariation disease UNIPROT Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. 18283415 2008
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 GeneticVariation disease UNIPROT A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families. 16892395 2006
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 GeneticVariation disease UNIPROT Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 16127465 2005
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 Biomarker disease CTD_human
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.700 CausalMutation disease CLINVAR