DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033589
rs111033589
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
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
dbSNP: rs111033589
rs111033589
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1480612338
rs1480612338
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		T 0.700 GeneticVariation CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
dbSNP: rs1565572949
rs1565572949
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		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
dbSNP: rs1565573786
rs1565573786
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		T 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
dbSNP: rs1565573786
rs1565573786
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		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
dbSNP: rs867798393
rs867798393
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1856273
Disease:
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		G 0.700 GeneticVariation CLINVAR