Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426421
Disease: Wide nose
Wide nose 		0.100 Biomarker phenotype HPO
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Further mechanistic studies showed that ADAMTS18 suppressed epithelial-mesenchymal transition (EMT), further inhibited migration and invasion of breast cancer cells. 28503860 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. 23818446 2013
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Low expression of ADAMTS18 was positively associated with high tumor stage (P=0.0239), positive lymph node metastasis (P=0.0388), and distant metastasis (P=0.0004). 28362704 2018
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 Biomarker disease BEFREE Physicians should consider screening ADAMTS18 in patients with microcornea and cone-rod dystrophy. 24874986 2014
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		0.010 GeneticVariation disease BEFREE The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. 23356391 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE This study reveals that mutations in the ADAMTS18 gene can cause a broad phenotypic spectrum of eye disorders and contribute to shed further light on the complexity of retinal diseases. 23356391 2013
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Our study suggests that ADAMTS18 promoter methylation is a potential epigenetic biomarker for early detection of lung cancer and warrants investigation as a therapeutic target for early-stage lung cancer. 30417422 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE ADAMTS18 dysregulation plays an important role in many disease processes including cancer. 28503860 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE Tissue levels of ADAMTS18 in patients with primary cancer were significantly lower compared with those with metastasis. 28362704 2018
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.100 GeneticVariation disease GWASCAT Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. 27114598 2016
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE The area most frequently deleted resided on 16q23.1, 3.5 MB downstream of the area most significantly associated with survival, and included the tumor suppressor gene ADAMTS18 and the cell recognition gene CNTNAP4. 18398821 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE ADAMTS18 is a putative tumor suppressive gene related to nasopharyngeal carcinoma. 19806480 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 AlteredExpression group BEFREE Thus, our results demonstrated that the tumor suppressor gene ADAMTS18 was downregulated in lung cancer by promoter CpG methylation, and it promoted sensitivity to cisplatin via EGFR/AKT signaling. 30417422 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE Furthermore, the methylation status of ADAMTS18 was not significantly associated with gender, age, location, tumor diameter, pathological stage, nuclear grade or short-term DFS in patients with ccRCC (p > 0.05). 25569086 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 PosttranslationalModification group BEFREE ADAMTS18 promoter methylation was detected in 70.8% of tumor tissues by methylation-specific PCR, but none of the normal tissues. 28503860 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE ADAMTS18 is a novel tumor suppressor and is critical to the pathology of human colorectal cancer. 28145888 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 AlteredExpression group BEFREE In particular, ADAMTS1, ADAMTS9, and ADAMTS18 have been found to be epigenetically silenced in malignant tumors of different sources, suggesting that they may function as tumor suppressor genes. 19458070 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE Thus, through functional epigenetics, we identified ADAMTS18 as a novel functional tumor suppressor, being frequently inactivated epigenetically in multiple carcinomas. 17546048 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype BEFREE Melanoma cells expressing mutant ADAMTS18 had reduced cell migration after short hairpin RNA-mediated knockdown of ADAMTS18, suggesting that ADAMTS18 mutations promote growth, migration, and metastasis in melanoma. 21047771 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Nude mouse model further confirmed that ADAMTS18 suppressed breast cancer metastasis in vivo. 28503860 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype BEFREE Tissue levels of ADAMTS18 in patients with primary cancer were significantly lower compared with those with metastasis. 28362704 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 Biomarker disease BEFREE ADAMTS18 is a putative tumor suppressive gene related to nasopharyngeal carcinoma. 19806480 2010