Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 Biomarker disease GENOMICS_ENGLAND Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18. 23818446 2013
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 GermlineCausalMutation disease ORPHANET Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18. 23818446 2013
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 GeneticVariation disease UNIPROT Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18. 23818446 2013
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 Biomarker disease BEFREE Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18. 23818446 2013
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 CausalMutation disease CLINVAR
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
0.710 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.310 Biomarker disease BEFREE Here we generated an Adamts18-deficient mouse strain as an in vivo model to investigate the role of ADAMTS18 in the pathogenesis of colorectal cancer. 28145888 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.310 GeneticVariation disease UNIPROT
CUI: C0266544
Disease: Microcornea
Microcornea
0.120 Biomarker disease BEFREE Physicians should consider screening ADAMTS18 in patients with microcornea and cone-rod dystrophy. 24874986 2014
CUI: C0266544
Disease: Microcornea
Microcornea
0.120 GeneticVariation disease BEFREE Our data suggest that ADAMTS18 plays an essential role in early eye development and that mutations therein cause a distinct eye phenotype that is mainly characterized by microcornea and myopia. 23818446 2013
CUI: C0266544
Disease: Microcornea
Microcornea
0.120 Biomarker disease HPO
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: C0005938
Disease: Bone Density
Bone Density
0.100 GeneticVariation phenotype GWASCAT Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. 19249006 2009
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
0.100 GeneticVariation phenotype GWASDB Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. 19249006 2009
CUI: C0423113
Disease: Telecanthus
Telecanthus
0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose
0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
0.100 Biomarker phenotype HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
0.100 Biomarker disease HPO
CUI: C0521683
Disease: Chorioretinal degeneration
Chorioretinal degeneration
0.100 Biomarker disease HPO
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 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 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 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 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