|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
|
20414677 |
2010 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
As most HHT patients have mutations in ENG (endoglin) or ACVRL1 (activin receptor-like kinase 1), a better understanding of the role of these genes in vascular development is likely to reveal the etiology of AVM formation.
|
20224041 |
2010 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
|
25312062 |
2015 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II.
|
12015308 |
2002 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
|
17384219 |
2007 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Defective angiogenesis in mice lacking endoglin.
|
10348742 |
1999 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia.
|
20364125 |
2010 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex.
|
15702480 |
2005 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
|
7894484 |
1994 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
|
30763665 |
2019 |
|
Juvenile polyposis syndrome
|
0.630 |
Biomarker
|
disease |
CLINGEN |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
Juvenile polyposis syndrome
|
0.630 |
Biomarker
|
disease |
CLINGEN |
Of 14 patients with juvenile polyposis, 2 with early-onset disease had mutations in ENG, encoding endoglin, previously only associated with hereditary hemorrhagic telangiectasia; 1 had hemizygous deletion encompassing PTEN and BMPR1A; and 1 had an SMAD4 mutation.
|
16287957 |
2005 |
|
Juvenile polyposis syndrome
|
0.630 |
Biomarker
|
disease |
CLINGEN |
Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/β-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer.
|
27127133 |
2016 |
|
JUVENILE POLYPOSIS OF STOMACH
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/β-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer.
|
27127133 |
2016 |
|
JUVENILE POLYPOSIS OF STOMACH
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
JUVENILE POLYPOSIS OF STOMACH
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
|
16287957 |
2005 |
|
Juvenile Polyposis Coli
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
|
16287957 |
2005 |
|
Juvenile Polyposis Coli
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Syndecan-1, Epithelial-Mesenchymal Transition Markers (E-cadherin/β-catenin) and Neoangiogenesis-related Proteins (PCAM-1 and Endoglin) in Colorectal Cancer.
|
27127133 |
2016 |
|
Juvenile Polyposis Coli
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic counselling in a national referral centre for pulmonary hypertension.
|
26699722 |
2016 |
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
|
30251589 |
2018 |
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].
|
28989145 |
2017 |
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic counselling in a national referral centre for pulmonary hypertension.
|
26699722 |
2016 |
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
|
15024723 |
2004 |