GREM1, gremlin 1, DAN family BMP antagonist, 26585

N. diseases: 179; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 GermlineCausalMutation disease ORPHANET Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 22561515 2012
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN GREM1 and POLE variants in hereditary colorectal cancer syndromes. 26493165 2016
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN The bone morphogenetic protein antagonist gremlin 1 is overexpressed in human cancers and interacts with YWHAH protein. 16545136 2006
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. 22561515 2012
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. 25992589 2015
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease GENOMICS_ENGLAND
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. 12696020 2003
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease GENOMICS_ENGLAND
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 GeneticVariation disease BEFREE Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. 18084292 2008
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients. 21128281 2011
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN Gene expression patterns of human colon tops and basal crypts and BMP antagonists as intestinal stem cell niche factors. 17881565 2007
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
0.610 Biomarker disease CLINGEN Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche. 25419707 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE Hence, these experiments demonstrated that GREM1 is involved in CRC development and procession and provide a new idea for CRC diagnosis, resistance therapy, and prognosis. 30426548 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. 24737748 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE In total, 44% of CRCs were positive for stromal GREM1, which was associated with decreased lymphovascular invasion, a lower cancer stage, and nuclear β-catenin staining. 28041973 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In conclusion, low-frequency UTR variant rs12915554 in the gene GREM1 was in relation to CRC susceptibility in a Chinese population and this variation might promote CRC development through enhancing GREM1 expression in a miRNA-mediated posttranscriptional manner. 28977865 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE The intestine-specific transcription factor CDX2 and Wnt effector TCF7L2 bound near rs16969681, with significantly higher affinity for the risk allele, and CDX2 overexpression in CDX2/GREM1-negative cells caused re-expression of GREM1. rs16969681 influences CRC risk through effects on Wnt-driven GREM1 expression in colorectal tumors. 25131200 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1). 26169059 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease BEFREE On this basis, our findings suggest that CRAC1 is unlikely to be implicated in the development of colorectal cancer in general or, if involved, it is through small somatic mutations or other loss of function mechanisms rather than allele loss. 12885466 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE GREM1-SCG5 rs4779584 polymorphisms may increase the risk of developing colorectal cancer. 24586997 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASDB Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. 24737748 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). 21655089 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease BEFREE In conclusion a high penetrant duplication in the regulatory region of GREM1, predisposing to CRC, was identified in a family with attenuated/atypical polyposis. 26493165 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease GWASCAT A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. 25990418 2015