DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
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
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
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
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 Biomarker disease CTD_human
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
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
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
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