DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Disease: Hypospadias, perineal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.100 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: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.100 CausalMutation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018