DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 CausalMutation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 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: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 Biomarker disease GENOMICS_ENGLAND Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. 21816240 2012
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		0.700 Biomarker disease GENOMICS_ENGLAND Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. 21816240 2012
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 GeneticVariation disease UNIPROT Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 15356051 2004
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		0.700 GermlineCausalMutation disease ORPHANET A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 11017805 2000
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		0.700 Biomarker disease CTD_human
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		0.700 CausalMutation disease CLINVAR
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		0.700 Biomarker disease CTD_human
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		0.310 GeneticVariation disease BEFREE In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. 29471294 2018
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		0.310 Biomarker disease MGD Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. 11090455 2000
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		0.310 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		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
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		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: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		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
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		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
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
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		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
CUI: C4551492
Disease: Micropenis
Micropenis 		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
CUI: C4551492
Disease: Micropenis
Micropenis 		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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.100 Biomarker disease HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 Biomarker disease HPO