Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Digital Arthropathy-Brachydactyly, Familial
0.710 GeneticVariation disease BEFREE We report a TRPV4 variant in a father and son referred with a diagnosis of Thiemann disease and compare the clinical and radiological features of Thiemann disease with Familial digital arthropathy-brachydactyly (FDAB). 31248428 2019
Digital Arthropathy-Brachydactyly, Familial
0.710 GermlineCausalMutation disease ORPHANET Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574 2011
Digital Arthropathy-Brachydactyly, Familial
0.710 Biomarker disease GENOMICS_ENGLAND Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574 2011
Digital Arthropathy-Brachydactyly, Familial
0.710 GeneticVariation disease UNIPROT Mutations in TRPV4 cause an inherited arthropathy of hands and feet. 21964574 2011
Digital Arthropathy-Brachydactyly, Familial
0.710 CausalMutation disease CLINVAR
Digital Arthropathy-Brachydactyly, Familial
0.710 Biomarker disease CTD_human
Digital Arthropathy-Brachydactyly, Familial
0.710 Biomarker disease GENOMICS_ENGLAND