DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Disease: Swyer Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		0.020 GeneticVariation disease BEFREE 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene. 31240586 2019
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		0.020 GeneticVariation disease BEFREE We describe here the first report from India wherein, two cases of 46,XY complete gonadal dysgenesis that could be attributable to mutations in the Desert hedgehog (DHH) gene. 21816240 2012