Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation disease UNIPROT Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. 18629880 2008
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation disease 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
Fibular hypoplasia and complex brachydactyly
0.920 GermlineCausalMutation disease 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
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation disease 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
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation disease 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
Fibular hypoplasia and complex brachydactyly
0.920 GeneticVariation disease 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
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker disease GENOMICS_ENGLAND A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 2703235 1989
Fibular hypoplasia and complex brachydactyly
0.920 CausalMutation disease CLINVAR
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker disease CTD_human
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker disease GENOMICS_ENGLAND
Fibular hypoplasia and complex brachydactyly
0.920 Biomarker disease MGD