GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: BRACHYDACTYLY, TYPE A1, C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 GeneticVariation disease UNIPROT A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 24098149 2013
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 GeneticVariation disease UNIPROT Mutations in GDF5 presenting as semidominant brachydactyly A1. 20683927 2010
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 Biomarker disease MGD
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 CausalMutation disease CLINVAR
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 Biomarker disease CTD_human
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.900 Biomarker disease GENOMICS_ENGLAND