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 |
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 |
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 |
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 |
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 |
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 |
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 |
Weill-Marchesani-Like Syndrome
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Weill-Marchesani-Like Syndrome
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
Dwarfism
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Ectopia Lentis
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Carpal Tunnel Syndrome
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
|
30833571 |
2019 |
Body Fat Distribution
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.
|
30664634 |
2019 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analyses identify new loci influencing intraocular pressure.
|
29617998 |
2018 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
|
28552196 |
2017 |