SEM1, SEM1 26S proteasome complex subunit, 7979

N. diseases: 61; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931019
Disease: Split hand foot deformity 1
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
CUI: C2931019
Disease: Split hand foot deformity 1
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
CUI: C2931019
Disease: Split hand foot deformity 1
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
CUI: C2931019
Disease: Split hand foot deformity 1
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
CUI: C2931019
Disease: Split hand foot deformity 1
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
CUI: C0265554
Disease: Ectrodactyly
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
CUI: C0265554
Disease: Ectrodactyly
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
CUI: C0265554
Disease: Ectrodactyly
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
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.340 GeneticVariation disease BEFREE These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7. 7606850 1995
CUI: C0007137
Disease: Squamous cell carcinoma
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C0221373
Disease: Claw hand
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
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 Biomarker disease BEFREE To date, seven chromosomal loci associated with isolated SHFM have been described, i.e., SHFM1 to 6 and SHFM/SHFLD. 24163146 2014
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 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
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 Biomarker disease BEFREE SHFM1, which is one out of seven known SHFM loci, maps to 7q21.2-q21.3. 25196357 2014
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 GeneticVariation disease BEFREE Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved. 22147889 2012
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 GeneticVariation disease BEFREE These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7. 7606850 1995
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 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
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 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
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 GeneticVariation disease BEFREE Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. 28324176 2018