Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation UNIPROT Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. 18629880

2008

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation UNIPROT Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. 16222676

2005

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GermlineCausalMutation ORPHANET Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. 16222676

2005

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation BEFREE Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. 16222676

2005

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation BEFREE Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). 12121354

2002

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation UNIPROT Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). 12121354

2002

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker GENOMICS_ENGLAND A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 2703235

1989

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 CausalMutation CLINVAR

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker CTD_human

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker GENOMICS_ENGLAND

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker MGD