Gene: ADAMTS10 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 GeneticVariation disease BEFREE Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies. 30201140 2019
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 Biomarker disease MGD Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterized by short stature, eye defects, hypermuscularity and thickened skin. 30060141 2018
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 Biomarker disease BEFREE ADAMTS10 has been characterized as a metalloproteinase involved in fibrillin-rich microfibril biogenesis, and its mutations have been implicated in the connective tissue disorder Weill-Marchesani syndrome. 30287421 2018
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 GeneticVariation disease BEFREE Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterized by short stature, eye defects, hypermuscularity and thickened skin. 30060141 2018
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 Biomarker disease BEFREE Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. 27068007 2016
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 GeneticVariation disease BEFREE Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. 25469541 2015
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 GeneticVariation disease BEFREE Our study suggests that isolated microspherophakia and the Weill-Marchesani Syndrome are not allelic to the ADAMTS10 gene. 19696795 2009
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 GeneticVariation disease BEFREE We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). 18567016 2008
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 Biomarker disease GENOMICS_ENGLAND ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 15368195 2004
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		0.770 Biomarker disease CTD_human