DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease UNIPROT Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 8798680 1996
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E). 14560002 2003
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE However, overexpressed p48 peptides containing the mutations found in three Ddb(-) XPE strains are inactive, and wild type p48 restores DDB activity to extracts from a fourth XPE Ddb(-) strain, GM01389, in which compound heterozygous mutations in DDB2 (p48) lead to a L350P change from one allele and a Asn-349 deletion from the other. 10777490 2000
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE Mutations in the DDB2 gene can cause a repair-deficiency syndrome xeroderma pigmentosum group E. Because tobacco carcinogens can cause DNA damage that is repaired by NER and suboptimal NER capacity is reported to be associated with lung cancer risk, we hypothesized that common variants in the DDB2 gene are associated with lung cancer risk. 16522664 2006
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE The xeroderma pigmentosum group E (XP-E) causing K244E mutant of DDB2 found in patient XP82TO, supported UV-DDB dimerization but was found to slide on DNA and failed to stably engage lesions. 24760829 2014
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excision repair. 12509284 2002
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE The DDB2 gene, which is mutated in xeroderma pigmentosum group E, enhances global genomic repair of cyclobutane pyrimidine dimers and suppresses UV-induced mutagenesis. 11971958 2002
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 GeneticVariation disease BEFREE Mutations in the DDB2 gene account for the underlying defect in XP-E. 16473935 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 GeneticVariation disease BEFREE A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. 28425625 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 GeneticVariation disease BEFREE These data indicate that the genetic risk is the same for the development of both limbal and nictitating membrane SCC in Haflinger horses and validates utilization of genetic testing of the DDB2 variant for both clinical management and the guidance of mating decisions. 29999543 2018
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E). 14560002 2003
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. 10469312 1999
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease. 30251654 2018
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE As only the Ddb- strains investigated remain classified in the xeroderma pigmentosum E complementation group, it is feasible that only Ddb- cells are xeroderma pigmentosum E and that mutations in the DDB2 gene are solely responsible for the xeroderma pigmentosum E group. 10771487 2000
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE Surprisingly, DNA synthesis recovered normally in GG-NER-deficient XP complementation group E (XP-E) cells that carry mutations in the p53 regulated DNA repair gene DDB2 and are specifically defective in the repair of cyclobutane pyrimidine dimers (CPD) but not pyrimidine (6-4) pyrimidone photoproducts. 17630510 2007
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease BEFREE Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excision repair. 12509284 2002
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.300 GeneticVariation disease LHGDN Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease. 17660462 2007
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: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.100 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 GeneticVariation group BEFREE In this study, we extended our investigations to recessively inherited tumour predisposition, and identified a homozygous germline mutation in the damage-specific DNA binding protein 2 (DDB2) gene in a patient with several facial tumours, for which doctors had been unable to provide a diagnosis. 17660462 2007
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 GeneticVariation disease BEFREE Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excision repair. 12509284 2002
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 GeneticVariation disease BEFREE We found that skin fibroblasts from four newly reported XP-E patients with numerous skin cancers and DDB2 mutations had slow repair of 6-4 photoproducts (6-4PP) and markedly reduced repair of cyclobutane pyrimidine dimers (CPD). 21388382 2011