|
Diverticular Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.
|
30177863 |
2018 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
DSS1, a candidate gene for split hand/split foot syndrome, provides the ability to recognize RPA-coated ssDNA to the tumor suppressor BRCA2, which is complexed with RAD51.
|
27694622 |
2017 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
We suggest that DSS1 expression could be a useful marker for drug resistance in breast cancers, and DSS1 knockdown can induce tumor apoptosis when used in combination with DNA-damaging drugs.
|
24289229 |
2013 |
|
Stomach Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Among the 7q21-22 candidate genes, SHFM1 and MCM7 are expressed in intestinal type gastric tumors, whereas COL1A2 is expressed in diffuse type gastric tumors.
|
28059478 |
2017 |
|
Stomach Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Similarly, genome-wide expression neighbors of SHFM1 and COL1A2 also showed mutually exclusive expression pattern, and stratify intestinal and diffuse type gastric tumors.
|
27805295 |
2017 |
|
Congenital Abnormality
|
0.010 |
Biomarker
|
group |
BEFREE |
Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1).
|
19223930 |
2009 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy.
|
23374840 |
2013 |
|
Congenital chromosomal disease
|
0.010 |
Biomarker
|
group |
BEFREE |
In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region.
|
7912888 |
1994 |
|
Congenital Heart Defects
|
0.010 |
Biomarker
|
group |
BEFREE |
The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms/genetic players are involved.
|
18383509 |
2008 |
|
HIV Infections
|
0.010 |
Biomarker
|
group |
BEFREE |
These techniques demonstrated that three regions of SEM1(86-107) comprise the amyloid fibril core and that positively charged residues are exposed, suggesting that electrostatic interactions between SEM1(86-107) and HIV or the cell surface may be responsible for mediating HIV infection enhancement by the SEM1(86-107) fibrils.
|
24811874 |
2014 |
|
Precancerous Conditions
|
0.010 |
Biomarker
|
group |
BEFREE |
In this work, we have identified deleted in split hand/split foot 1 protein (DSS1) as an early biomarker that is specifically upregulated in premalignant and malignant cervical epithelial cells, but is low or undetectable in non-malignant cells.
|
23024267 |
2013 |
|
Deformity of limb
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval.
|
17230488 |
2007 |
|
Deformity
|
0.010 |
Biomarker
|
group |
BEFREE |
Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1).
|
19223930 |
2009 |
|
Osteoporotic Fractures
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Genome-wide association studies (GWAS) have repeatedly identified genetic variants associated with bone mineral density (BMD) and osteoporotic fracture in non-coding regions of C7ORF76, a poorly studied gene of unknown function.
|
30878523 |
2019 |
|
Limb defects
|
0.010 |
Biomarker
|
group |
BEFREE |
While double knockout of Dlx5 and Dlx6 resulted in limb defects in mice, the majority of patients with SHFM1 had only heterozygous chromosomal abnormalities.
|
25332435 |
2014 |
|
Primary malignant neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy.
|
23374840 |
2013 |
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
|
29304378 |
2018 |
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
|
24249740 |
2014 |
|
Bone Mineral Density Test
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
|
22504420 |
2012 |
|
Bone Mineral Density Test
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
|
24249740 |
2014 |
|
Platinum measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.
|
31296530 |
2019 |
|
Absence of hand
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Neoplasm Metastasis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
DSS1 mRNA and protein levels are significantly increased in cultured human cervical carcinoma cell lines originating from primary and metastatic tumors.
|
23024267 |
2013 |