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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 Biomarker disease BEFREE PARP1-binding protein (PARPBP/PARI/C12orf48), a negative regulator of homologous recombination (HR), has been suggested to function as an oncogene in cervical, lung, and pancreatic cancer. 30949905 2019
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: 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: 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 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 Biomarker disease BEFREE PARP1-binding protein (PARPBP/PARI/C12orf48), a negative regulator of homologous recombination (HR), has been suggested to function as an oncogene in cervical, lung, and pancreatic cancer. 30949905 2019
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: 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: 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: 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: 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: 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: 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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE Taken together, our results suggest that PARI plays potential oncogenic roles and functions as a transcriptional target and effector of FOXM1 in GC development. 29805304 2018
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: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 Biomarker disease BEFREE Cut-off values of FLV ≤27.2 cm<sup>3</sup> and PARI ≥0.77 predicted the subsequent development of RDS. 28969484 2019
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Knockdown of PARI by RNA inference decreased cell proliferation, migration, and invasion of GC cells <i>in vitro</i>, as well as reduced the xenograft tumor growth and lung metastasis formation <i>in vivo</i>. 29805304 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE Taken together, our results suggest that PARI plays potential oncogenic roles and functions as a transcriptional target and effector of FOXM1 in GC development. 29805304 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 Biomarker disease BEFREE A Randomized, Double-Blinded, Placebo-Controlled, Dose-Escalation Phase 1 Study of Aerosolized Pirfenidone Delivered via the PARI Investigational eFlow Nebulizer in Volunteers and Patients with Idiopathic Pulmonary Fibrosis. 30698487 2020
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE Kaplan-Meier analyses suggested that upregulation of PARPBP was correlated with worse overall survival (OS) and recurrence-free survival (RFS) in HCC. 30949905 2019
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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019