PARPBP, PARP1 binding protein, 55010

N. diseases: 26; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.010 GeneticVariation disease BEFREE AROM(+) males present a multitude of severe structural and functional alterations in the reproductive organs, such as cryptorchidism associated with Leydig cell hyperplasia, dysmorphic seminiferous tubules, and disrupted spermatogenesis. 11356692 2001
CUI: C0023600
Disease: Leydig cell hyperplasia
Leydig cell hyperplasia 		0.010 GeneticVariation disease BEFREE AROM(+) males present a multitude of severe structural and functional alterations in the reproductive organs, such as cryptorchidism associated with Leydig cell hyperplasia, dysmorphic seminiferous tubules, and disrupted spermatogenesis. 11356692 2001
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.010 Biomarker disease BEFREE AROM+ mice present several dysfunctions, such as adrenal and pituitary hyperplasia, cryptorchidism, Leydig cell hypertrophy and hyperplasia, and gynecomastia. 14982857 2004
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		0.010 AlteredExpression phenotype BEFREE The enzyme inhibition and gene expression (RNA and protein) studies identified PLA2, LOX-5, LOX-12, COX-2, and perhaps AROM as likely sites of THF-diol regulation in MCF-7 cells. 18087590 2007
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 Biomarker disease BEFREE Hence, our findings implicate C12orf48, termed PARP-1 binding protein (PARPBP), or its interaction with PARP-1 to be a potential molecular target for development of selective therapy for pancreatic cancer. 20931645 2011
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.040 Biomarker disease BEFREE Hence, our findings implicate C12orf48, termed PARP-1 binding protein (PARPBP), or its interaction with PARP-1 to be a potential molecular target for development of selective therapy for pancreatic cancer. 20931645 2011
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.020 Biomarker disease BEFREE Depletion of C12orf48 sensitized PDAC cells to agents causing DNA damage and also enhanced DNA damage-induced G2/M arrest through reduction of PARP-1 enzymatic activities. 20931645 2011
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction 		0.010 Biomarker disease BEFREE Transgenic (Tg) male mice overexpressing aromatase (Cyp19a1) under the ubiquitin C promoter in the estrogen-susceptible C57Bl/6J genetic background (AROM+/6J) developed inguinal hernia by 2 months and severe BOO by 9 to 10 months, with 100% penetrance. 21356374 2011
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.010 Biomarker phenotype BEFREE Transgenic (Tg) male mice overexpressing aromatase (Cyp19a1) under the ubiquitin C promoter in the estrogen-susceptible C57Bl/6J genetic background (AROM+/6J) developed inguinal hernia by 2 months and severe BOO by 9 to 10 months, with 100% penetrance. 21356374 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Knock-down of their human homologs (C1ORF112 and C12ORF48) in HeLa cells slowed growth, indicating that these genes of unknown function, identified by GeneFriends, may be involved in cancer. 23039964 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Knock-down of their human homologs (C1ORF112 and C12ORF48) in HeLa cells slowed growth, indicating that these genes of unknown function, identified by GeneFriends, may be involved in cancer. 23039964 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 Biomarker disease BEFREE Finally, we show that PARI knockdown suppresses the genomic instability of Fanconi Anemia/BRCA pathway-deficient cells. 22153967 2012
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 Biomarker disease BEFREE Finally, we show that PARI knockdown suppresses the genomic instability of Fanconi Anemia/BRCA pathway-deficient cells. 22153967 2012
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 AlteredExpression disease BEFREE PARI upregulation in pancreatic cancer cells or avian DT40 cells conferred DNA repair deficiency and genomic instability. 23436799 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.040 AlteredExpression disease BEFREE PARI upregulation in pancreatic cancer cells or avian DT40 cells conferred DNA repair deficiency and genomic instability. 23436799 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Significantly, PARI silencing compromised cancer cell proliferation in vitro, leading to cell-cycle alterations associated with S-phase delay, perturbed DNA replication, and activation of the DNA damage response pathway in the absence of DNA damage stimuli. 23436799 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Significantly, PARI silencing compromised cancer cell proliferation in vitro, leading to cell-cycle alterations associated with S-phase delay, perturbed DNA replication, and activation of the DNA damage response pathway in the absence of DNA damage stimuli. 23436799 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 AlteredExpression phenotype BEFREE PARI overexpression promotes genomic instability and pancreatic tumorigenesis. 23436799 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.020 Biomarker disease BEFREE Taken together, our findings offered a preclinical proof-of-concept for PARI as candidate therapeutic target to treat PDAC. 23436799 2013
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.010 Biomarker disease BEFREE In a mouse xenograft model of pancreatic cancer, PARI silencing was sufficient to reduce pancreatic tumor growth in vivo. 23436799 2013
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 Biomarker phenotype BEFREE Here, we utilized a transgenic mouse strain that overexpresses human CYP19, which encodes aromatase (AROM+ mice), and mice with knockout of Esr1, encoding estrogen receptor α (ERαKO mice), to analyze interactions between viable Leydig cells (LCs) and testicular macrophages that may lead to male infertility. 24762434 2014
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 AlteredExpression disease BEFREE Furthermore, evaluation of molecular markers in the testes of patients with nonobstructive azoospermia (NOA) revealed enhanced expression of CYP19, GAS6, and AXL, which suggests that the AROM+ mouse model reflects human infertility. 24762434 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 Biomarker disease BEFREE PARI, an element of the homologous recombination pathway of DNA repair<i>,</i>is involved in the regulation of cell cycle and carcinogenesis in pancreatic cancer. 29805304 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.040 Biomarker disease BEFREE PARI, an element of the homologous recombination pathway of DNA repair<i>,</i>is involved in the regulation of cell cycle and carcinogenesis in pancreatic cancer. 29805304 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE PARI, an element of the homologous recombination pathway of DNA repair<i>,</i>is involved in the regulation of cell cycle and carcinogenesis in pancreatic cancer. 29805304 2018