Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 Biomarker disease CTD_human Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.400 GeneticVariation disease GWASDB Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
0.100 GeneticVariation disease GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation disease GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation disease GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 GeneticVariation disease LHGDN Correlation of HLA-Cw*06 allele frequency with some clinical features of psoriasis vulgaris in the population of northern Poland. 15523160 2004
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 Biomarker disease BEFREE SPR1 gene near HLA-C is unlikely to be a psoriasis susceptibility gene. 12823445 2003
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 GeneticVariation disease LHGDN In a case-control study, five of the nine single nucleotide polymorphisms (SNPs) found in SEEK1 were associated with psoriasis, while one of the four SNPs found in SPR1 showed association. 12930300 2003
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 AlteredExpression disease BEFREE Both SEEK1 and SPR1 are expressed in normal and psoriasis skin. 12930300 2003
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.020 AlteredExpression phenotype BEFREE In these latter cell lines representing advanced malignant transformation, there was a loss of up- and downregulation, respectively, by the phorbol ester and vitamin A. Transfection study with chimeric constructs of the SPR1 promoter and a reporter gene showed that the dysregulation of SPR1 expression in malignant transformation was a result of perturbation of the basal and enhancer elements of the first 162 nucleotides in the 5'-flanking promoter region of the SPR1 gene. 10615070 2000
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.020 AlteredExpression phenotype BEFREE Because the spr1 protein is a component of the crosslinked envelope that forms during the squamous differentiation process, we hypothesize that the apparent loss of spr1 gene expression disrupts mechanisms for terminal squamous differentiation in the bronchial epithelium, thereby contributing to malignant transformation. 9651177 1998
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
0.010 Biomarker disease BEFREE No significantly different allelic distribution of 13 SPR1 SNPs could be found between the patients with PV and controls after correction for multiple testing. 12823445 2003
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation phenotype BEFREE These findings suggest an association of transcriptional dysregulation of the SPR1 gene with multistep bronchial carcinogenesis. 10615070 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Re-expression of SPR1 in breast cancer cells by phorbol 12-myristate 13-acetate (PMA) or UV irradiation is mediated by the AP-1 binding site in the SPR1 promoter. 10501656 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE SPR1 presents an example of class II genes, since its expression was up-regulated in tumor cells by phorbol 12-myristate 13-acetate (PMA) or by ultraviolet (UV) irradiation. 10501656 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Re-expression of SPR1 in breast cancer cells by phorbol 12-myristate 13-acetate (PMA) or UV irradiation is mediated by the AP-1 binding site in the SPR1 promoter. 10501656 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression group BEFREE The SPR1 gene was identified by differential display on the basis of its reduced or absent expression in human breast tumor cell lines compared to normal mammary epithelial cell strains. 10501656 1999
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma
0.010 AlteredExpression disease BEFREE Loss of spr1 expression measurable by quantitative RT-PCR in human bronchogenic carcinoma cell lines. 9651177 1998