Source: UNIPROT ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
0.800 GeneticVariation UNIPROT Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 15356051 2004