Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE TSPY is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY) that is ectopically expressed in a subset of male hepatocellular carcinomas (HCCs). 30867900 2019
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY. 30753444 2019
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 GeneticVariation disease BEFREE DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. 23157850 2012
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE Positive OCT3/4 staining was present in all gonadoblastomas and dysgerminomas investigated, TSPY expression was only seen in the gonadoblastoma/dysgerminoma lesions of the 16 DSD patients. 22937135 2012
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 GeneticVariation disease BEFREE Significant amounts of TSPY gene were found in seven cases, two of which had gonadoblastoma and one had cytogenetic proof of Y chromosome presence. 21752796 2011
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE The testis-specific protein Y-linked (TSPY) repeat gene has recently been demonstrated to be the putative gene for GBY, based on its location on the GBY critical region, expression patterns in early and late stages of gonadoblastoma and ability to induce gonadoblastoma-like structures in the ovaries of transgenic female mice. 21204751 2011
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE Recent studies establish the testis-specific protein Y-encoded (TSPY) gene to be the putative gene for GBY. 19306348 2009
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE Furthermore, tissue from five phenotypic female patients harbouring combined dysgerminoma/gonadoblastoma expressed TSPY and contained Y-chromosome material as confirmed by FISH. 17274819 2007
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE TSPY protein localized with established germ cell tumor markers, such as the placental alkaline phosphatase, c-KIT, and OCT3/4, in the same tumor cells of both gonadoblastoma and adjacent carcinoma in situ, the precursor for germ cell tumors. 17349529 2007
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 GeneticVariation disease BEFREE The testis-specific protein Y-encoded (TSPY) gene is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY) that predisposes dysgenetic gonads of intersex patients to gonadoblastoma development. 17521702 2007
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE Elevated levels of TSPY have been observed in gonadoblastoma specimens and a variety of other tumor tissues, including testicular germ cell tumors, prostate cancer, melanoma, and liver cancer. 16762081 2006
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE Testis-specific protein Y-encoded (TSPY) gene may participate in the oncogenesis of gonadoblastoma expression of TSPY in the tumor tissue. 16784771 2006
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE The testis-specific protein Y-encoded (TSPY) gene is a candidate for the gonadoblastoma locus on the Y chromosome and is expressed in normal testicular germ cells and gonadoblastoma cells of XY sex-reversed females. 16035036 2005
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE TSPY, a candidate gene for a factor that promotes gonadoblastoma formation (GBY), is a testis-specific multicopy gene family in the male-specific region of the human Y (MSY) chromosome. 15241014 2004
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 Biomarker disease BEFREE Although the exact nature of such variant TSPY transcripts and proteins is still unclear, their differential expression suggests that the TSPY gene may also be involved in the multi-step prostatic oncogenesis besides its putative role in gonadoblastoma and testicular seminoma. 14684991 2003
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 AlteredExpression disease BEFREE These results confirm the high level of TSPY protein expression by these cells and demonstrate the value of this antibody as an additional marker to confirm the diagnosis of gonadoblastoma. 10629567 1999