Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.700 CausalMutation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.700 GeneticVariation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.700 Biomarker disease GENOMICS_ENGLAND Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. 21816240 2012
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.700 GeneticVariation disease UNIPROT Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 15356051 2004
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.700 Biomarker disease CTD_human