Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 GeneticVariation disease BEFREE Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. 28176809 2017
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 Biomarker disease BEFREE Whereas two such disorders, Weill-Marchesani syndrome 1 and Weill-Marchesani-like syndrome involve proteases (ADAMTS10 and ADAMTS17, respectively), geleophysic dysplasia and isolated ectopia lentis in humans involve ADAMTSL2 and ADAMTSL4, respectively, which are not proteases. 25957949 2015
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 Biomarker disease BEFREE Among them, ADAMTS17 is the causative gene of Weill-Marchesani syndrome (WMS) and Weill-Marchesani-like syndrome, of which common symptoms are ectopia lentis and short stature. 31201465 2019
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 GeneticVariation disease BEFREE A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 31726086 2019
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 GeneticVariation disease BEFREE Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. 23754960 2013
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 CausalMutation disease CLINVAR
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 GermlineCausalMutation disease ORPHANET Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 19836009 2009
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 Biomarker disease CTD_human
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.300 Biomarker disease CTD_human Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors. 19233941 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 Biomarker disease BEFREE Among them, ADAMTS17 is the causative gene of Weill-Marchesani syndrome (WMS) and Weill-Marchesani-like syndrome, of which common symptoms are ectopia lentis and short stature. 31201465 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia. 22486325 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE Here we report a novel pathogenic variant in ADAMTS17 that causes WMS 4 in an individual with short stature, brachydactyly, and small, spherical, and dislocated lenses. 31726086 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. 28176809 2017
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.110 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.110 GeneticVariation disease BEFREE Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. 28176809 2017
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		0.100 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies two susceptibility loci for osteosarcoma. 23727862 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies two susceptibility loci for osteosarcoma. 23727862 2013
CUI: C0423320
Disease: Iridodonesis
Iridodonesis 		0.100 Biomarker disease HPO
CUI: C2939415
Disease: Phacodonesis
Phacodonesis 		0.100 Biomarker disease HPO