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 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 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
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: 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 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: C0005938
Disease: Bone Density
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
CUI: C0005938
Disease: Bone Density
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
CUI: C0005938
Disease: Bone Density
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
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. 24249740 2014
CUI: C0177804
Disease: Bone Mineral Density Test
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
CUI: C0177804
Disease: Bone Mineral Density Test
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
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		0.100 GeneticVariation phenotype GWASCAT Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy. 31296530 2019
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
CUI: C0432028
Disease: Split foot
Split foot 		0.060 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: C0432028
Disease: Split foot
Split foot 		0.060 GeneticVariation disease BEFREE Split-hand/split-foot malformation (SHFM1) has been reported to be caused by deletions, duplications or rearrangements involving the 7q21.3 region harboring DSS1, DLX5, and DLX6. 23169702 2012