NABP2, nucleic acid binding protein 2, 79035

N. diseases: 19; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Mutations in or loss of genome stability pathways can lead to a number of pathologies including cancer. hSSB1 is a critical DNA repair protein functioning in the repair and signalling of stalled DNA replication forks, double strand DNA breaks and oxidised DNA lesions. 28506294 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Mutations in or loss of genome stability pathways can lead to a number of pathologies including cancer. hSSB1 is a critical DNA repair protein functioning in the repair and signalling of stalled DNA replication forks, double strand DNA breaks and oxidised DNA lesions. 28506294 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation group BEFREE However, conditional deletion of Ssb1 in adult mice led to increased cancer susceptibility with broad tumour spectrum, impaired male fertility with testicular degeneration, and increased radiosensitivity and IR-induced chromosome breaks in vivo. 23408915 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE However, conditional deletion of Ssb1 in adult mice led to increased cancer susceptibility with broad tumour spectrum, impaired male fertility with testicular degeneration, and increased radiosensitivity and IR-induced chromosome breaks in vivo. 23408915 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.010 GeneticVariation disease BEFREE Compared with GDM offspring with high-concurrent SSB intake (>3 servings/d) and no EBF, GDM offspring with high SSB intake and EBF did not have lower odds of obesity, whereas those with GDM, low SSB (≤1 serving/d), and EBF had lower odds of obesity. 31389196 2019
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		0.010 AlteredExpression group BEFREE Down-regulation of single-stranded DNA-binding protein 1 expression induced by HCMV infection promotes lipid accumulation in cells. 28902926 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 Biomarker disease BEFREE Constitutive <i>Ssb1/Ssb2</i> double knockout (DKO) caused early embryonic lethality, whereas conditional <i>Ssb1/Ssb2</i> double knockout (cDKO) in adult mice resulted in acute lethality due to bone marrow failure and intestinal atrophy featuring stem and progenitor cell depletion, a phenotype unexpected from the previously reported single knockout models of <i>Ssb1</i> or <i>Ssb2</i> Mechanistically, cDKO HSPCs showed altered replication fork dynamics, massive accumulation of DNA damage, genome-wide double-strand breaks enriched at Ssb-binding regions and CpG islands, together with the accumulation of <i>R</i>-loops and cytosolic ssDNA. 28270450 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Next, the effects of SSDBP1 on cisplatin sensitivity, proliferation, and apoptosis of lung cancer cell lines were assayed by MTT and flow cytometry, respectively; ABC transporters, apoptosis-related genes, and cell cycle-related genes by real-time PCR, and DNA wound repair by comet assay. 28210897 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Next, the effects of SSDBP1 on cisplatin sensitivity, proliferation, and apoptosis of lung cancer cell lines were assayed by MTT and flow cytometry, respectively; ABC transporters, apoptosis-related genes, and cell cycle-related genes by real-time PCR, and DNA wound repair by comet assay. 28210897 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Next, the effects of SSDBP1 on cisplatin sensitivity, proliferation, and apoptosis of lung cancer cell lines were assayed by MTT and flow cytometry, respectively; ABC transporters, apoptosis-related genes, and cell cycle-related genes by real-time PCR, and DNA wound repair by comet assay. 28210897 2017
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 Biomarker phenotype BEFREE Our findings suggest that the inherited common variation in three DNA repair genes-XPA, MUS81 and NABP2-may be involved in the development of BCC. 28510302 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 Biomarker disease BEFREE Our findings suggest that the inherited common variation in three DNA repair genes-XPA, MUS81 and NABP2-may be involved in the development of BCC. 28510302 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 AlteredExpression disease BEFREE We found that single-strand DNA-binding protein 1 (SSBP1) was downregulated in highly metastatic breast cancer cells. 26676758 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Here we report that germline Ssb1(-/-) embryos die at birth from respiratory failure due to severe rib cage malformation and impaired alveolar development, coupled with additional skeletal defects. 23408915 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE However, conditional deletion of Ssb1 in adult mice led to increased cancer susceptibility with broad tumour spectrum, impaired male fertility with testicular degeneration, and increased radiosensitivity and IR-induced chromosome breaks in vivo. 23408915 2013
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis 		0.010 GeneticVariation disease BEFREE However, conditional deletion of Ssb1 in adult mice led to increased cancer susceptibility with broad tumour spectrum, impaired male fertility with testicular degeneration, and increased radiosensitivity and IR-induced chromosome breaks in vivo. 23408915 2013
CUI: C0302142
Disease: Deformity
Deformity 		0.010 Biomarker group BEFREE Here we report that germline Ssb1(-/-) embryos die at birth from respiratory failure due to severe rib cage malformation and impaired alveolar development, coupled with additional skeletal defects. 23408915 2013
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.010 Biomarker disease BEFREE Here we report that germline Ssb1(-/-) embryos die at birth from respiratory failure due to severe rib cage malformation and impaired alveolar development, coupled with additional skeletal defects. 23408915 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE Therefore, hSSB1 may positively modulate p21 to regulate cell cycle progression and DNA damage response, implicating hSSB1 as a novel, promising therapeutic target for cancers such as HCC. 21242961 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE Human SSB1 (single-stranded binding protein 1 [hSSB1]) was recently identified as a part of the ataxia telangiectasia mutated (ATM) signaling pathway. 19786574 2009
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.010 Biomarker disease BEFREE Mutation screening of fifteen genes (CORT, CLSTN1, CTNNBIP1, DFFA, ENO1, GPR157, H6PD, KIF1B, LOC440559, LZIC, MGC4399, PEX14, PGD, PIK3CD, and SSB1) that lie within the candidate gene region for SCCD was performed in members of two families affected with SCCD. 16163269 2005