PSMC3IP, PSMC3 interacting protein, 29893

N. diseases: 53; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 Biomarker disease BEFREE By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. 21963259 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.330 GeneticVariation disease BEFREE The aim of this study was to investigate a group of patients with POI for possible PSMC3IP mutations. 24481226 2014
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
0.310 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.120 Biomarker disease BEFREE By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. 21963259 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.120 GeneticVariation disease BEFREE No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. 24481226 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 AlteredExpression disease BEFREE Using breast cancer gene product GT198 (PSMC3IP; alias TBPIP or Hop2) as a unique marker, we revealed the cellular identities of GT198 mutant cells in human breast tumor stroma. 27001628 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Proteasome 26S subunit ATPase 3 interacting protein (PSMC3IP) is an oncogene in breast cancer, while its role in HCC remains unclear. 30362169 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 AlteredExpression disease BEFREE Based on the generated interaction network, we examine several apoptotic markers to determine the effect of PSMC3IP and EPSTI1 gene expression modulation in two different human breast cancer cell lines to suggest potential molecular mechanisms to unveil their role in the disease. 25590583 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Frequent GT198 mutations are associated with GT198(+) tumor stroma but not with GT198(-) tumor cells. 27001628 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Using a recently identified tumor suppressor gene, GT198 (PSMC3IP), as a unique marker, we searched for the identity of GT198 mutant cells in ovarian cancer. 24097974 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Likewise, PSMC3IP silencing suppressed the xenografted tumor development of BEL-7404 cells. 30362169 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE Proteasome 26S subunit ATPase 3 interacting protein (PSMC3IP) is an oncogene in breast cancer, while its role in HCC remains unclear. 30362169 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE Using breast cancer gene product GT198 (PSMC3IP; alias TBPIP or Hop2) as a unique marker, we revealed the cellular identities of GT198 mutant cells in human breast tumor stroma. 27001628 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE Based on the generated interaction network, we examine several apoptotic markers to determine the effect of PSMC3IP and EPSTI1 gene expression modulation in two different human breast cancer cell lines to suggest potential molecular mechanisms to unveil their role in the disease. 25590583 2015
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 Biomarker disease BEFREE To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest. 18941885 2009
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Hence, the oncoprotein GT198 has the potential to be a new target in anti-angiogenic therapies in human cancer. 28881671 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE In this study, using GT198 as a marker for microdissection, we find that ovarian tumor stromal cells harboring GT198 mutations are present in various types of ovarian cancer including high and low grade serous, endometrioid, mucinous, clear cell, and granulosa cell carcinomas and in precursor lesions such as inclusion cysts. 24097974 2013
CUI: C0010709
Disease: Cyst
Cyst
0.010 Biomarker disease BEFREE In this study, using GT198 as a marker for microdissection, we find that ovarian tumor stromal cells harboring GT198 mutations are present in various types of ovarian cancer including high and low grade serous, endometrioid, mucinous, clear cell, and granulosa cell carcinomas and in precursor lesions such as inclusion cysts. 24097974 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Together, these findings suggest that GT198-expressing malignant pericytes can give rise to tumor cells through angiogenesis, and serve as a potential source of cells for distant metastasis. 28881671 2017
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma
0.010 GeneticVariation disease BEFREE GT198 has germ line mutations in familial and early onset breast and ovarian cancers and recurrent somatic mutations in sporadic fallopian tube cancers. 24097974 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell. 30362169 2019
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
0.010 Biomarker disease BEFREE Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified. 23332201 2013
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE Increased GT198 expression is associated with increased lymph node metastasis and decreased progression-free survival in oral cancer patients. 28881671 2017