RAD54L, RAD54 like, 8438

N. diseases: 46; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.600 CausalMutation disease CLINVAR
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.600 GeneticVariation disease UNIPROT
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.600 CausalMutation disease CGI
CUI: C4016849
Disease: ADENOCARCINOMA, COLONIC, SOMATIC
ADENOCARCINOMA, COLONIC, SOMATIC 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE Serine/Threonine Kinase CHEK1-Dependent Transcriptional Regulation of RAD54L Promotes Proliferation and Radio Resistance in Glioblastoma. 29287241 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE CDC7-dependent transcriptional regulation of RAD54L is essential for tumorigenicity and radio-resistance of glioblastoma. 29413763 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.010 GeneticVariation disease BEFREE The hRAD54 protein belongs to a superfamily of DNA helicases, and mutations in genes with DNA helicase function have been found to be responsible for cancer-prone syndromes (xeroderma pigmentosum, Bloom syndrome, Werner syndrome). hRAD54 thus could be a candidate modifier gene in tumors characterized by allelic imbalance at 1p32, the chromosome region in which this gene is located. 10640146 2000
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		0.010 AlteredExpression disease BEFREE The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR. 29287594 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.300 GeneticVariation disease ORPHANET
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.420 GeneticVariation disease BEFREE However, RAD54L rs1710286 and RPA1 rs11078676 were not observed to be associated with either the risk or survival of BC. 28940489 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.420 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.420 Biomarker disease CTD_human
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.420 AlteredExpression disease BEFREE The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR. 29287594 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 GeneticVariation group BEFREE RAD54L (OMIM 603615, Locus Link 8438) has been proposed as a candidate oncosupressor in tumours bearing a non-random deletion of 1p32, such as breast or colon carcinomas, lymphomas and meningiomas. 12614485 2003
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 AlteredExpression disease BEFREE CDC7-dependent transcriptional regulation of RAD54L is essential for tumorigenicity and radio-resistance of glioblastoma. 29413763 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 Biomarker disease BEFREE Serine/Threonine Kinase CHEK1-Dependent Transcriptional Regulation of RAD54L Promotes Proliferation and Radio Resistance in Glioblastoma. 29287241 2018
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.020 Biomarker disease BEFREE TAF12, NFYC, and RAD54L are oncogenes required to initiate and maintain choroid plexus carcinoma (CPC). 25998405 2015
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.020 Biomarker disease BEFREE Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes. 25965574 2015
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE These findings indicate that germline mutations in RAD51, RAD51AP1, RAD51L1, RAD51L3, RAD52 and RAD54L are unlikely to be causal of an inherited predisposition to CLL. 18203022 2008
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.010 AlteredExpression disease BEFREE Since expression of mutant hRAD54 and restoration of functional Prkdc in scid cells cause the same effects, i.e. telomere shortening and reduced recombination rates at telomeres, these results argue that telomere elongation in scid cells is a complex trait resulting from interactions between homologous recombination mechanisms and DNA-PKcs. 15975611 2005
CUI: C0079757
Disease: Diffuse Mixed-Cell Lymphoma
Diffuse Mixed-Cell Lymphoma 		0.300 Biomarker disease CTD_human
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		0.100 CausalMutation disease CLINVAR
CUI: C4733330
Disease: familial chronic lymphocytic leukemia
familial chronic lymphocytic leukemia 		0.010 Biomarker disease BEFREE Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia. 18203022 2008
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE CDC7-dependent transcriptional regulation of RAD54L is essential for tumorigenicity and radio-resistance of glioblastoma. 29413763 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 Biomarker disease BEFREE Serine/Threonine Kinase CHEK1-Dependent Transcriptional Regulation of RAD54L Promotes Proliferation and Radio Resistance in Glioblastoma. 29287241 2018