A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
Marlene D Dalgaard, Nils Weinhold, Daniel Edsgärd, Jeremy D Silver, Tune H Pers, John E Nielsen, Niels Jørgensen, Anders Juul, Thomas A Gerds, Aleksander Giwercman, Yvonne L Giwercman, Gabriella Cohn-Cedermark, Helena E Virtanen, Jorma Toppari, Gedske Daugaard, Thomas S Jensen, Søren Brunak, Ewa Rajpert-De Meyts, Niels E Skakkebæk, Henrik Leffers, Ramneek Gupta, 03.12.2011
DALGAARD, Marlene D., et al. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. Journal of medical genetics, 2012, 49. Jg., Nr. 1, S. 58-65.
Publication: http://dx.doi.org/10.1136/jmedgenet-2011-100174
Disclaimer
The publication A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation by Marlene D Dalgaard, Nils Weinhold, Daniel Edsgärd, Jeremy D Silver, Tune H Pers, John E Nielsen, Niels Jørgensen, Anders Juul, Thomas A Gerds, Aleksander Giwercman, Yvonne L Giwercman, Gabriella Cohn-Cedermark, Helena E Virtanen, Jorma Toppari, Gedske Daugaard, Thomas S Jensen, Søren Brunak, Ewa Rajpert-De Meyts, Niels E Skakkebæk, Henrik Leffers, Ramneek Gupta is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information,
conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1: Identification of markers using GWAS (Discovery stage)
Genome: Genome-wide Association Study
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0000789: Infertility |
107 |
Patients are also diagnosed with testicular dysgenesis syndrome |
| HP:control |
439 |
|
| HP:0100728: Germ cell neoplasia |
212 |
Testicular germ cell cancer; Patients are also diagnosed with testicular dysgenesis syndrome |
| HP:0000047: Hypospadias |
31 |
Patients are also diagnosed with testicular dysgenesis syndrome |
| HP:0008715: Testicular dysgenesis |
488 |
All Participants have a testicular dysgenesis syndrom; They are further divided into patients with infertility, testicular germ cell cancer, hypospadias and cryptorchidism |
| HP:0000028: Cryptorchidism |
138 |
Patients are also diagnosed with testicular dysgenesis syndrome |
Data set 2: Validation Stage
Genome: Targeted Genotyping
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:control |
235 |
|
| HP:0100728: Germ cell neoplasia |
333 |
Testicular germ cell cancer; Patients are also diagnosed with testicular dysgenesis syndrome |
| HP:0008715: Testicular dysgenesis |
436 |
All Participants have a testicular dysgenesis syndrom; They are further divided into patients with infertility, testicular germ cell cancer, hypospadias and cryptorchidism |
| HP:0000028: Cryptorchidism |
103 |
Patients are also diagnosed with testicular dysgenesis syndrome |
Data set 3: Geneexpression on testiular level
Proteome: Other
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0001363: testis |
Fetal |
|
Human |
|
| BTO_0000279: testicular cancer cell |
Adult |
Testicular tumors |
Human |
|
