SERPINB5, serpin family B member 5, 5268

N. diseases: 87; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE To test the therapeutic value of the maspin gene (SERPINB5) in breast cancer, we established a syngeneic breast tumor metastasis model. 12027560 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE To test the therapeutic value of the maspin gene (SERPINB5) in breast cancer, we established a syngeneic breast tumor metastasis model. 12027560 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 GeneticVariation group BEFREE To test the therapeutic value of the maspin gene (SERPINB5) in breast cancer, we established a syngeneic breast tumor metastasis model. 12027560 2002
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The N-myc downstream regulated gene (NDRG) family of NDRG1, 2, 3, and mammary serine protease inhibitor (Maspin) gene are well-known modulators in the neoplasia process. 27589737 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE At the level of cell cycle, they inhibit the expression of oncogenic cyclin D1, increase the expression of cyclin-dependent kinase inhibitors (p21, p27, and p57) and tumor suppressor genes (APC, ATM, PTEN, SERPINB5). 30257383 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Maspin is a member of the serine protease inhibitors and the maspin gene, a tumor suppressor gene, is down-regulated in a large fraction of prostate cancers. 15960601 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.060 GeneticVariation group LHGDN Maspin and p53 protein expression in gastric adenocarcinoma and its clinical applications. 18091326 2008
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.050 GeneticVariation disease BEFREE The genotypes of 836 unrelated Korean participants (including 430 with gastric cancer) were examined for 12 tag single-nucleotide polymorphisms (SNPs) and imputed for 178 SNPs in the maspin gene. 22962304 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.050 GeneticVariation disease BEFREE These results suggest that demethylation at the maspin gene promoter disrupts the cell-type-specific gene repression in both GNE and gastric cancer. 14578190 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.040 GeneticVariation disease BEFREE These results suggest that demethylation at the maspin gene promoter disrupts the cell-type-specific gene repression in both GNE and gastric cancer. 14578190 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.040 GeneticVariation disease BEFREE The genotypes of 836 unrelated Korean participants (including 430 with gastric cancer) were examined for 12 tag single-nucleotide polymorphisms (SNPs) and imputed for 178 SNPs in the maspin gene. 22962304 2012
CUI: C0025202
Disease: melanoma
melanoma
0.030 GeneticVariation disease BEFREE The 19 CpG sites of the maspin promoter region were extensively hypomethylated in HMV-I, a maspin-positive cell line, and those of the remaining four melanoma and NHEM cell lines were hypermethylated. 15086568 2004
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.020 GeneticVariation group BEFREE Three single-nucleotide polymorphisms (SNPs) of the Maspin gene from 741 patients with oral cancer and 601 non-cancer controls were analyzed by real-time PCR. 27525723 2016
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.020 GeneticVariation group BEFREE Heterozygous TC of the SERPINB5 rs17071138 polymorphism may be a factor that increases susceptibility to oral cancer. 28339463 2017
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.020 GeneticVariation disease BEFREE Three single-nucleotide polymorphisms (SNPs) of the Maspin gene from 741 patients with oral cancer and 601 non-cancer controls were analyzed by real-time PCR. 27525723 2016
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.020 GeneticVariation disease BEFREE Heterozygous TC of the SERPINB5 rs17071138 polymorphism may be a factor that increases susceptibility to oral cancer. 28339463 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 GeneticVariation disease BEFREE Haplotypes "T-C-A" and "C-C-C" (rs2289519 + rs2289520 + rs1455555) located in the SERPINB5 coding region had a decreased (AOR = 0.744; P = 0.031) and increased (AOR = 1.981; P = 0.001) HCC risk, respectively. 27221742 2016
Secondary malignant neoplasm of bone
0.010 GeneticVariation disease BEFREE To investigate whether maspin, when produced at endogenous levels, is capable of inhibiting metastasis to bone we transfected a bacterial artificial chromosome (BAC) genomic clone containing the maspin gene into PC-3 cells that aggressively metastasize to bone in an animal model. 18367129 2009
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
0.010 GeneticVariation phenotype BEFREE The maspin gene promoter region of all GNE without IM was hypermethylated on both alleles whereas those with IM frequently represented the haploid type of hypomethylation status. 14578190 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease CTD_human Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer. 16799634 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE METABIRC and TCGA breast cancer cohort mRNA expression data analysis revealed that a high expression of the anti‑angiogenesis‑associated genes, THBS2, SERPINF1 and serpin family B member 5 (SERPINB5), and of the tumor suppressor gene, PTEN, was associated with a better overall survival (OS) of breast cancer patients. 31059004 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease CTD_human Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer. 16799634 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE METABIRC and TCGA breast cancer cohort mRNA expression data analysis revealed that a high expression of the anti‑angiogenesis‑associated genes, THBS2, SERPINF1 and serpin family B member 5 (SERPINB5), and of the tumor suppressor gene, PTEN, was associated with a better overall survival (OS) of breast cancer patients. 31059004 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination. 11596016 2001