|
Dentin dysplasia, type 1
|
0.510 |
Biomarker
|
disease |
BEFREE |
We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth.
|
23712319 |
2013 |
|
Dentin dysplasia, type 1
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
|
22152679 |
2011 |
|
Dentin dysplasia, type 1
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
|
Vitiligo
|
0.120 |
Biomarker
|
disease |
BEFREE |
The SMOC2 gene is reported to be associated with families with autoimmune vitiligo that had other autoimmunities including thyroid disease.
|
23463390 |
2013 |
|
Vitiligo
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Recently, an SMOC2 variant (rs13208776) was reported to be associated with vitiligo in Caucasian patients from an isolated founder population.
|
20965805 |
2011 |
|
Vitiligo
|
0.120 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
|
19890347 |
2010 |
|
Vitiligo
|
0.120 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
|
19890347 |
2010 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Lean body mass
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
|
30593698 |
2019 |
|
Periapical bone loss
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Dentinogenesis imperfecta limited to primary teeth
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Obliteration of the pulp chamber
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Colorectal Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We found that LGR5 expression in the epithelium and stroma was associated with tumor stage, and by integrating functional experiments with LGR5-sorted cell RNA sequencing data from adenoma and normal organoids, we found correlations between LGR5 and CRC-specific genes, including dickkopf WNT signaling pathway inhibitor 4 (<i>DKK4</i>) and SPARC-related modular calcium binding 2 (<i>SMOC2</i>).
|
29467240 |
2018 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
These results suggest that SMOC2 functions as a tumor suppressor during the development of HCC and may represent an effective prognostic factor and novel therapeutic target for HCC.
|
29151969 |
2017 |
|
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Functional analyses (cell proliferation and colony formation assays, cell migration and invasion assays, cell cycle and apoptosis assays) demonstrated that stable overexpression of SMOC2 using a lentiviral vector significantly inhibited cell proliferation, colony formation, migration and invasion, and induced G0/G1 phase arrest in HCC cells <i>in vitro</i>.
|
29151969 |
2017 |
|
Liver carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
In addition, experiments with a mouse model revealed the suppressed effect of SMOC2 on HCC tumorigenicity and metastases <i>in vivo</i>.
|
29151969 |
2017 |
|
Colorectal Carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
SMOC-2 was localized at the bottom of normal human colonic crypts and at increased levels in CRC tissue with preferential expression in invasive areas of the tumor.
|
25915847 |
2016 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
SMOC-2 was localized at the bottom of normal human colonic crypts and at increased levels in CRC tissue with preferential expression in invasive areas of the tumor.
|
25915847 |
2016 |
|
Liver carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of Smoc2 promoted HCC cell proliferation and cell cycle progression.
|
28018113 |
2016 |
|
Autoimmune Diseases
|
0.020 |
Biomarker
|
group |
BEFREE |
The SMOC2 gene is reported to be associated with families with autoimmune vitiligo that had other autoimmunities including thyroid disease.
|
23463390 |
2013 |
|
Microdontia (disorder)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth.
|
23712319 |
2013 |
|
Microdontia (disorder)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.
|
23317772 |
2013 |
|
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
0.020 |
Biomarker
|
disease |
BEFREE |
The SMOC2 gene is reported to be associated with families with autoimmune vitiligo that had other autoimmunities including thyroid disease.
|
23463390 |
2013 |