Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.010 GeneticVariation group BEFREE In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. 29471294 2018