DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
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: rs7296288
rs7296288
Entrez Id: 50846
Gene Symbol: DHH
DHH
CUI: C0005586
Disease:
Bipolar Disorder 		0.710 GeneticVariation BEFREE Logistic regression analysis revealed a marginally significant interaction (genetic variant × SLE) at rs4523957 (P uncorrected = 0.0034) with depression and a significant association of single nucleotide polymorphism identified from evidence of BD GWAS (rs7296288, downstream of DHH at 12q13.1) with depression as the main effect (P uncorrected = 9.4 × 10(-4), P corrected = 0.0424). 25517604 2014
dbSNP: rs7296288
rs7296288
Entrez Id: 50846
Gene Symbol: DHH
DHH
CUI: C0005586
Disease:
Bipolar Disorder 		0.710 GeneticVariation GWASDB Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. 23070075 2013
dbSNP: rs7296288
rs7296288
Entrez Id: 50846
Gene Symbol: DHH
DHH
CUI: C0005586
Disease:
Bipolar Disorder 		0.710 GeneticVariation GWASDB Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 21926972 2011
dbSNP: rs1480612338
rs1480612338
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0010417
Disease:
Cryptorchidism 		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: 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: rs1480612338
rs1480612338
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0452148
Disease:
Hypospadias, perineal 		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: rs1480612338
rs1480612338
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C4551492
Disease:
Micropenis 		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: C0948896
Disease:
Primary hypogonadism 		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: 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: rs1565572949
rs1565572949
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0238395
Disease:
Male Pseudohermaphroditism 		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: rs1565572949
rs1565572949
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0302885
Disease:
Testicular dysgenesis 		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: C0010417
Disease:
Cryptorchidism 		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: 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
dbSNP: rs1565573786
rs1565573786
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C0302885
Disease:
Testicular dysgenesis 		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: C0238395
Disease:
Male Pseudohermaphroditism 		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: rs1565573786
rs1565573786
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C4551492
Disease:
Micropenis 		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: rs11168854
rs11168854
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
dbSNP: rs7296288
rs7296288
Entrez Id: 50846
Gene Symbol: DHH
DHH
CUI: C1269683
Disease:
Major Depressive Disorder 		0.700 GeneticVariation GWASDB A mega-analysis of genome-wide association studies for major depressive disorder. 22472876 2013
dbSNP: rs104894346
rs104894346
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C2751325
Disease:
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565573892
rs1565573892
Entrez Id: 50846;105369759
Gene Symbol: DHH;LOC105369759
DHH;LOC105369759
CUI: C2751325
Disease:
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		T 0.700 CausalMutation CLINVAR
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