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 GENOMICS_ENGLAND
CUI: C0221373
Disease: Claw hand
Claw hand 		0.170 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		0.100 Biomarker disease HPO
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: C3887496
Disease: Oligodactyly
Oligodactyly 		0.100 Biomarker disease HPO
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 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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype 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: C0262963
Disease: extragonadal germ cell tumor
extragonadal germ cell tumor 		0.010 Biomarker disease BEFREE SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy. 23374840 2013
CUI: C0036631
Disease: Seminoma
Seminoma 		0.010 Biomarker disease BEFREE SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy. 23374840 2013
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		0.010 Biomarker disease BEFREE SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy. 23374840 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy. 23374840 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE SEM-1 is the first cell line derived from an extragonadal germ cell tumor showing intermediate characteristics between seminoma and nonseminoma, and as such, is an important model to study the molecular pathogenesis of this malignancy. 23374840 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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 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: 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: 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: C0432028
Disease: Split foot
Split foot 		0.060 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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group 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: 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