CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
|
27432940 |
2016 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
|
27432940 |
2016 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
|
27432940 |
2016 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
|
25957586 |
2015 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
Idiopathic Pulmonary Fibrosis
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
Idiopathic Pulmonary Fibrosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
Carcinoma, Ovarian Epithelial
|
0.310 |
Biomarker
|
disease |
CTD_human |
Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
|
28346442 |
2017 |
Carcinoma, Ovarian Epithelial
|
0.310 |
Biomarker
|
disease |
BEFREE |
Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
|
28346442 |
2017 |
Lung Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
|
28604730 |
2017 |
Malignant neoplasm of lung
|
0.300 |
Biomarker
|
disease |
CTD_human |
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
|
28604730 |
2017 |
Dyskeratosis Congenita
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Hamman-Rich syndrome
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
Hamman-Rich Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
Usual Interstitial Pneumonia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
Familial Idiopathic Pulmonary Fibrosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
|
23583980 |
2013 |
melanoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only.
|
30429480 |
2018 |
Coronary Artery Disease
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
Glioma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
|
28346443 |
2017 |
melanoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
Glioma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Four LTL-associated SNPs were significantly associated with glioma risk in pooled analyses, including those in the telomerase component genes TERC (O.R.=1.14; 95% C.I.=1.03-1.28) and TERT (O.R.=1.39; 95% C.I.=1.27-1.52), and those in the CST complex genes OBFC1 (O.R.=1.18; 95% C.I.=1.05-1.33) and CTC1 (O.R.=1.14; 95% C.I.=1.02-1.28).
|
26646793 |
2015 |
Coronary Artery Disease
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Association of TERC and OBFC1 haplotypes with mean leukocyte telomere length and risk for coronary heart disease.
|
24349443 |
2013 |
Basal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
Forced expiratory volume function
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
|
30804560 |
2019 |