GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Acromesomelic dysplasia Hunter-Thompson type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 GeneticVariation disease BEFREE Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families. 27577507 2017
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 GermlineCausalMutation disease ORPHANET A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. 8589725 1996
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 Biomarker disease GENOMICS_ENGLAND A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 2703235 1989
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 Biomarker disease CTD_human
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 Biomarker disease MGD