|
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes.
|
19401716 |
2009 |
|
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Split hand foot deformity 1
|
0.350 |
Biomarker
|
disease |
BEFREE |
This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
|
8782053 |
1996 |
|
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
|
7606850 |
1995 |
|
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
|
Split hand foot deformity 1
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
ORPHANET |
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
|
23169702 |
2012 |
|
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Ectrodactyly
|
0.340 |
Biomarker
|
disease |
BEFREE |
This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
|
8782053 |
1996 |
|
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
|
7606850 |
1995 |
|
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
|
Squamous cell carcinoma
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
In summary, these data suggest that the extent of promoter methylation plays a role in modulating DSS1 gene expression and highlight that promoter hypomethylation is a frequent event in melanoma and SCC closely linked to poor prognosis.
|
27825810 |
2017 |
|
Squamous cell carcinoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
Arsenic exposure in utero exacerbates skin cancer response in adulthood with contemporaneous distortion of tumor stem cell dynamics.
|
18922899 |
2008 |
|
Diverticular Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.
|
30177863 |
2018 |
|
Diverticular Bleeding
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.
|
30177863 |
2018 |
|
Claw hand
|
0.170 |
Biomarker
|
disease |
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 |
|
Claw hand
|
0.170 |
Biomarker
|
disease |
BEFREE |
In addition, its removal by chromosomal abnormalities in humans could cause split hand and foot malformation 1 (SHFM1), a disorder associated with DLX5/6.
|
22442009 |
2012 |
|
Claw hand
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Claw hand
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.
|
11168022 |
2001 |
|
Claw hand
|
0.170 |
Biomarker
|
disease |
BEFREE |
Using the yeast two-hybrid system with fragments of human BRCA2, we identified an interaction with the human DSS1 (deleted in split hand/split foot) gene.
|
10373512 |
1999 |
|
Claw hand
|
0.170 |
Biomarker
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
|
Claw hand
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22.
|
8023840 |
1994 |
|
Claw hand
|
0.170 |
Biomarker
|
disease |
HPO |
|
|
|
|
Platinum measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.
|
31296530 |
2019 |
|
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 |