|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 10 SNPs (ZNF676-rs409627, TERT-rs2736100, CTC1-rs3027234, DHX35-rs6028466, PXK-rs6772228, NAF1-rs7675998, ZNF208-rs8105767, OBFC1-rs9420907, ACYP2-rs11125529 and TERC-rs10936599) alone and combined in a LTL genetic score ("teloscore", which explains 2.2% of the telomere variability) in relation to PDAC risk in 2,374 cases and 4,326 controls.
|
30325019 |
2019 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Basal Cell Cancer
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal Cell Neoplasm
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Breast Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
Bronchiectasis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Carcinoma of larynx
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results indicate a potential association between OBFC1 and LC risk in Chinese Han male population.
|
31016429 |
2019 |
|
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 |
|
Cardiovascular Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
The OBFC1 SNPs were in linkage disequilibrium (r(2)=0.99), and both SNPs were similarly associated with CVD mortality in women.
|
22449406 |
2012 |
|
Central Nervous System Neoplasms
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
|
28346443 |
2017 |
|
Cerebral Palsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome.
|
31245382 |
2019 |
|
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 |
|
|
|
|
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 |
|
|
|
|
Chronic Lymphocytic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Genetic variants in TERC, TERT, and OBFC1 are associated with both longer LTL and increased CLL risk.
|
27197291 |
2016 |
|
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.
|
30940143 |
2019 |
|
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
|
30804561 |
2019 |
|
Cleft palate, isolated
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome.
|
31245382 |
2019 |
|
Clubbed Fingers
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Utilizing monoclonal antibodies anti-Tn antigen (HB-Tn1), anti-sialosyl-Tn antigen (HB-STn1), anti-T antigen (HB-T1) and the biotinylated Amaranthus caudatus agglutinin (ACA), we have investigated the expression of the simple mucin-type carbohydrate antigens in hereditary nonpolyposis colorectal cancer (HNPCC; 15 cases) compared with sporadic colorectal cancer (CRC; 60 cases) and normal colonic mucosa (30 cases).
|
8982378 |
1996 |