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: C0426868
Disease: Absence of hand
Absence of hand 		0.100 Biomarker phenotype HPO
CUI: C0728895
Disease: Absent finger
Absent finger 		0.100 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease LHGDN Sample size computation for association studies using case-parents design. 17406092 2006
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals. 10373512 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE DSS1(high) or DSS1(low) breast cancer cells were prepared by retroviral cDNA transfection or DSS1 siRNA on proliferation, cell cycle progression, and survival by flow cytometric analyses with or without anti-cancer drugs. 24289229 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE The DSS1 protein interacts with the breast cancer susceptibility protein BRCA2 that plays an integral role in the repair of DNA double-strand breaks (DSBs). 17563742 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation phenotype BEFREE Therefore, variants in the SHFM1 gene could affect the BRCA2 functionality and be associated with the familial breast/ovarian carcinogenesis. 23371468 2013
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation disease BEFREE Mutation analysis of the SHFM1 gene in breast/ovarian cancer families. 23371468 2013
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 Biomarker disease BEFREE Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. 23024267 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 AlteredExpression disease BEFREE DSS1 mRNA and protein levels are significantly increased in cultured human cervical carcinoma cell lines originating from primary and metastatic tumors. 23024267 2013
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 HPO
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