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 CausalMutation disease CLINVAR
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.750 Biomarker disease CTD_human
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.110 Biomarker disease HPO
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: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423320
Disease: Iridodonesis
Iridodonesis 		0.100 Biomarker disease HPO
CUI: C0423336
Disease: Lens tremulous
Lens tremulous 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2939415
Disease: Phacodonesis
Phacodonesis 		0.100 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Many sequence variants affecting diversity of adult human height. 18391951 2008
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Many sequence variants affecting diversity of adult human height. 18391951 2008
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group 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: 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: 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: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.070 GeneticVariation disease BEFREE Our clinical and genetic findings suggest that ADAMTS17 plays a role in crystalline lens zonules and connective tissue formation and that mutations in ADAMTS17 are sufficient to produce some of the main features typically described in WMS. 19836009 2009
CUI: C0339681
Disease: Index myopia
Index myopia 		0.010 GeneticVariation disease BEFREE Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 19836009 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.070 GeneticVariation disease BEFREE A truncating mutation in canine ADAMTS17 causes PLL, a well-characterized veterinary disease, which can now be compared to a recently described rare WMS-like disease caused by truncating mutations of the human ADAMTS17 ortholog. 20375329 2010
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		0.010 GeneticVariation phenotype BEFREE An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. 20375329 2010
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.070 GeneticVariation disease BEFREE Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2). 21858451 2011
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		0.020 Biomarker disease BEFREE Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2). 21858451 2011