DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Disease: Hypospadias, perineal ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565573786
rs1565573786
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0452148
Disease:
Hypospadias, perineal 		C 0.700 CausalMutation CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018