chr19:45349837:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,853,095-45,873,846 |
| hg38 | chr19:45,349,837-45,370,588 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.176 | squamous cell carcinoma | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.003 | Carcinoma, Transitional Cell | NA | BeFree,GAD | Detail | |
| <0.001 | CNS disorder | NA | BeFree | Detail | |
| 0.002 | Uterine Cervical Neoplasm | NA | GAD | Detail | |
| <0.001 | Charcot-Marie-Tooth disease | NA | BeFree | Detail | |
| 0.019 | Chromosome Aberrations | NA | GAD | Detail | |
| 0.002 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.008 | Cockayne syndrome | Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenoty... | BeFree,LHGDN | 25431422 | Detail |
| 0.008 | Cockayne syndrome | The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xer... | BeFree,LHGDN | 25500814 | Detail |
| 0.010 | colorectal carcinoma | Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Ch... | BeFree,GAD | 24531312 | Detail |
| 0.010 | colorectal carcinoma | Our results confirmed that polymorphisms in XPC and XPD may be associated with t... | BeFree,GAD | 25391773 | Detail |
| 0.143 | Colorectal Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Deafness | NA | GAD | Detail | |
| 0.002 | diarrhea | NA | GAD | Detail | |
| 0.038 | DNA Damage | NA | GAD | Detail | |
| 0.002 | endometriosis | NA | GAD | Detail | |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| 0.002 | Fibrosis | NA | GAD | Detail | |
| 0.002 | Gastritis, Atrophic | NA | GAD | Detail | |
| <0.001 | gastroesophageal reflux disease | NA | BeFree | Detail | |
| 0.012 | Head and Neck Neoplasms | NA | GAD | Detail | |
| 0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
| 0.002 | Heartburn | NA | GAD | Detail | |
| 0.003 | hepatitis B | NA | BeFree,GAD | Detail | |
| 0.003 | hepatitis C | NA | BeFree,GAD | Detail | |
| 0.002 | Hodgkin Disease | NA | GAD | Detail | |
| 0.003 | male infertility | NA | BeFree,GAD | Detail | |
| 0.012 | Cancer of Head and Neck | Pooling data and DNA specimens from three case-control studies in western Washin... | BeFree | 16030112 | Detail |
| 0.007 | Kidney Neoplasm | NA | GAD | Detail | |
| 0.002 | Laryngeal neoplasm | NA | GAD | Detail | |
| 0.005 | Fibroid Tumor | NA | BeFree,GAD | Detail | |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| 0.004 | osteosarcoma | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| 0.010 | colorectal carcinoma | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.035 | xeroderma pigmentosum | Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups ... | BeFree | 16880786 | Detail |
| 0.014 | Carcinoma of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| 0.001 | Adenocarcinoma Of Esophagus | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.084 | Malignant neoplasm of breast | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| <0.001 | gastroesophageal reflux disease | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.010 | leukemia | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| <0.001 | Paroxysmal atrial tachycardia | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.214 | Malignant neoplasm of lung | Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide po... | BeFree | 17504986 | Detail |
| 0.058 | colorectal cancer | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| 0.010 | colorectal carcinoma | This hospital-based case-control study examined whether polymorphic DNA repair g... | BeFree | 15914278 | Detail |
| <0.001 | Sporadic Breast Carcinoma | Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial ... | BeFree | 19051060 | Detail |
| 0.008 | breast carcinoma | Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... | BeFree | 16319991 | Detail |
| 0.002 | Osteosarcoma of bone | We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... | BeFree | 23098477 | Detail |
| <0.001 | Barrett esophagus | Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous var... | BeFree | 15878910 | Detail |
| 0.058 | colorectal cancer | Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and... | BeFree | 23317245 | Detail |
| 0.010 | colorectal carcinoma | Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colore... | BeFree | 24157118 | Detail |
| 0.058 | colorectal cancer | This hospital-based case-control study examined whether polymorphic DNA repair g... | BeFree | 15914278 | Detail |
| 0.005 | chronic lymphocytic leukemia | NA | BeFree,GAD | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.002 | Leukemia, Lymphocytic, Acute, L1 | NA | GAD | Detail | |
| 0.007 | myeloid leukemia | NA | GAD | Detail | |
| 0.002 | Leukemia, Myeloid, Chronic-Phase | NA | GAD | Detail | |
| 0.002 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | NA | GAD | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| <0.001 | Leukoplakia | NA | BeFree | Detail | |
| 0.005 | Leukoplakia, Oral | NA | BeFree,GAD | Detail | |
| 0.003 | Liver neoplasms | NA | BeFree,GAD | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.037 | Lung Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
| 0.003 | lymphoma | NA | BeFree,GAD | Detail | |
| 0.005 | Lymphoma, Follicular | NA | BeFree,GAD | Detail | |
| 0.005 | Animal Mammary Neoplasms | NA | GAD | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.005 | meningioma | NA | BeFree,GAD | Detail | |
| <0.001 | Mental Retardation | NA | BeFree | Detail | |
| 0.002 | Mesothelioma | NA | GAD | Detail | |
| 0.007 | Mouth Neoplasms | NA | GAD | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| 0.002 | Nasopharyngeal Neoplasms | NA | GAD | Detail | |
| 0.003 | Neoplasm Metastasis | NA | BeFree,GAD | Detail | |
| 0.002 | Neoplasms, Multiple Primary | NA | GAD | Detail | |
| 0.002 | Neoplasms, Radiation-Induced | NA | GAD | Detail | |
| 0.002 | Neural Tube Defects | NA | GAD | Detail | |
| 0.003 | acoustic neuroma | NA | BeFree,GAD | Detail | |
| 0.005 | neutropenia | NA | BeFree,GAD | Detail | |
| 0.122 | Occupational Diseases | NA | CTD_human,GAD | Detail | |
| 0.003 | oligodendroglioma | NA | BeFree,LHGDN | Detail | |
| 0.002 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.013 | Pancreatic Neoplasm | NA | GAD,LHGDN | Detail | |
| <0.001 | Paroxysmal atrial tachycardia | NA | BeFree | Detail | |
| <0.001 | periodontitis | NA | BeFree | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.002 | Pleural Neoplasms | NA | GAD | Detail | |
| <0.001 | polycythemia vera | NA | BeFree | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| 0.002 | pre-eclampsia | NA | GAD | Detail | |
| 0.003 | Precancerous Conditions | NA | BeFree,GAD | Detail | |
| <0.001 | progeria | NA | BeFree | Detail | |
| 0.125 | Prostatic Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | pterygium | NA | GAD | Detail | |
| 0.002 | Rectal Neoplasms | NA | GAD | Detail | |
| 0.001 | schizophrenia | NA | BeFree | Detail | |
| <0.001 | Age-related cataract | XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: ... | BeFree | 25873778 | Detail |
| 0.120 | Skin Abnormalities | NA | BeFree,CTD_human | Detail | |
| 0.123 | Dermatologic disorders | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | Skin Diseases, Genetic | Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive ... | BeFree | 24986372 | Detail |
| 0.003 | Skin lesion | NA | BeFree,GAD | Detail | |
| 0.151 | Skin Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.144 | Stomach Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.005 | Cerebrovascular accident | NA | BeFree,GAD,LHGDN | Detail | |
| 0.122 | Sunburn | NA | CTD_human,GAD | Detail | |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| 0.002 | Chromosomal translocation | NA | GAD | Detail | |
| 0.002 | Ureteral Neoplasms | NA | GAD | Detail | |
| 0.002 | Uterine Neoplasms | NA | GAD | Detail | |
| 0.035 | xeroderma pigmentosum | Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenoty... | BeFree,GAD,LHGDN | 25431422 | Detail |
| 0.035 | xeroderma pigmentosum | The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xer... | BeFree,GAD,LHGDN | 25500814 | Detail |
| 0.035 | xeroderma pigmentosum | Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result... | BeFree,GAD,LHGDN | 25605938 | Detail |
| 0.035 | xeroderma pigmentosum | TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy ... | BeFree,GAD,LHGDN | 25620205 | Detail |
| 0.122 | Hyperkeratosis, Epidermolytic | NA | CTD_human,GAD | Detail | |
| 0.005 | Helicobacter Infections | NA | GAD | Detail | |
| 0.006 | diffuse large B-cell lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| 0.005 | Neoplasms, Second Primary | NA | GAD,LHGDN | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| 0.002 | cataract | NA | GAD | Detail | |
| 0.002 | Small cell carcinoma of lung | NA | GAD | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| 0.006 | Malignant neoplasm of mouth | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of gallbladder | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of testis | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of brain | NA | GAD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Adenomatous Polyps | NA | BeFree | Detail | |
| 0.002 | Cervical Intraepithelial Neoplasia | NA | GAD | Detail | |
| <0.001 | pediatric acute myeloblastic leukemia | NA | BeFree | Detail | |
| 0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | Premature aging syndrome | To further grasp the molecular mechanisms that govern transcription, we focused ... | BeFree | 25340339 | Detail |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| <0.001 | gallbladder carcinoma | NA | BeFree | Detail | |
| 0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.214 | Malignant neoplasm of lung | We found a significantly increased risk of lung cancer development in XPD genoty... | BeFree,GAD,GWASCAT | 25300687 | Detail |
| 0.002 | age related macular degeneration | NA | GAD | Detail | |
| 0.002 | Carcinoma, Small Cell | NA | GAD | Detail | |
| 0.001 | Brittle hair | NA | BeFree | Detail | |
| <0.001 | Chronic Periodontitis | NA | BeFree | Detail | |
| 0.001 | Xeroderma pigmentosum, group A | NA | BeFree | Detail | |
| <0.001 | Xeroderma pigmentosum, group B | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung cancer stage IIIA | NA | BeFree | Detail | |
| 0.004 | Squamous cell carcinoma of esophagus | Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal sq... | BeFree | 25209371 | Detail |
| 0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
| <0.001 | cervical squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of oropharynx | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of liver | NA | BeFree,GAD | Detail | |
| <0.001 | malignant mesothelioma | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.015 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | dermatofibrosarcoma protuberans | NA | BeFree | Detail | |
| <0.001 | neuropathy | NA | BeFree | Detail | |
| 0.003 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | combined immunodeficiency | NA | BeFree | Detail | |
| 0.003 | Thyroid carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Multisystem disorder | Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result... | BeFree | 25605938 | Detail |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.003 | prostate carcinoma | NA | BeFree | Detail | |
| 0.003 | Epithelial ovarian cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Stage III Colorectal Cancer | NA | BeFree | Detail | |
| 0.008 | breast carcinoma | NA | BeFree | Detail | |
| 0.014 | Carcinoma of lung | We found a significantly increased risk of lung cancer development in XPD genoty... | BeFree | 25300687 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| 0.005 | Carcinoma of bladder | Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in... | BeFree | 25089939 | Detail |
| 0.005 | skin carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Febrile Neutropenia | NA | BeFree | Detail | |
| <0.001 | Cockayne Syndrome, Type I | NA | BeFree | Detail | |
| <0.001 | Well Differentiated Oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | Helicobacter pylori infection | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Testicular malignant germ cell tumor | NA | BeFree | Detail | |
| 0.003 | Hyperkeratosis | NA | BeFree,GAD | Detail | |
| 0.002 | Carcinoma, Pancreatic Ductal | NA | GAD | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Colorectal cancer metastatic | NA | BeFree | Detail | |
| 0.002 | Polyp of large intestine | NA | GAD | Detail | |
| 0.016 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| 0.002 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.002 | sarcoma | NA | GAD | Detail | |
| <0.001 | major depressive disorder | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | Sporadic Breast Carcinoma | NA | BeFree | Detail | |
| <0.001 | Treatment related acute myeloid leukaemia | NA | BeFree | Detail | |
| 0.002 | hearing impairment | NA | GAD | Detail | |
| 0.029 | Mammary Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | Skin Carcinogenesis | NA | BeFree | Detail | |
| 0.058 | colorectal cancer | Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Ch... | BeFree,GAD | 24531312 | Detail |
| 0.058 | colorectal cancer | Our results confirmed that polymorphisms in XPC and XPD may be associated with t... | BeFree,GAD | 25391773 | Detail |
| 0.010 | colorectal carcinoma | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| 0.058 | colorectal cancer | In the present study, we investigated the role in colorectal cancer of single-nu... | BeFree | 18006925 | Detail |
| 0.002 | stomach carcinoma | Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... | BeFree | 20817763 | Detail |
| 0.120 | CAMFAK syndrome | NA | ORPHANET | Detail | |
| <0.001 | PHOTOPAROXYSMAL RESPONSE 1 | Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result... | BeFree | 25605938 | Detail |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.138 | Trichothiodystrophy Syndromes | Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive ... | BeFree,ORPHANET | 24986372 | Detail |
| 0.138 | Trichothiodystrophy Syndromes | Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodys... | BeFree,ORPHANET | 25340339 | Detail |
| 0.138 | Trichothiodystrophy Syndromes | Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenoty... | BeFree,ORPHANET | 25431422 | Detail |
| 0.138 | Trichothiodystrophy Syndromes | Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result... | BeFree,ORPHANET | 25605938 | Detail |
| 0.138 | Trichothiodystrophy Syndromes | TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy ... | BeFree,ORPHANET | 25620205 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
| 0.008 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,GAD | Detail | |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| <0.001 | Urothelial Carcinoma | NA | BeFree | Detail | |
| 0.003 | prostate carcinoma | We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... | BeFree | 19914098 | Detail |
| 0.015 | Malignant neoplasm of prostate | We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in ... | BeFree | 19914098 | Detail |
| 0.004 | liver carcinoma | NA | BeFree,GAD | Detail | |
| 0.012 | Malignant neoplasm of stomach | Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R39... | BeFree | 20817763 | Detail |
| 0.120 | Pena Shokeir syndrome Type 2 | NA | ORPHANET | Detail | |
| <0.001 | Pregnancy Related Skin Change | NA | BeFree | Detail | |
| <0.001 | Stage III Colorectal Cancer AJCC v7 | NA | BeFree | Detail | |
| 0.002 | Solar Erythema | NA | GAD | Detail | |
| 0.002 | myelodysplastic syndrome | NA | GAD | Detail | |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
| <0.001 | Intracranial glioma | NA | BeFree | Detail | |
| 0.003 | coronary artery disease | The aim of this study was to investigate the relationship between AP-endonucleas... | BeFree | 23368530 | Detail |
| 0.002 | Experimental Organism Basal Cell Carcinoma | A weak association between XPD exon 6 silent C/A polymorphism and BCC developmen... | BeFree | 25209577 | Detail |
| 0.002 | Hearing Loss | NA | GAD | Detail | |
| 0.037 | Lung Neoplasms | Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559),... | BeFree | 15564288 | Detail |
| 0.035 | adenocarcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | adenoma | NA | BeFree,GAD | Detail | |
| <0.001 | AIDS related complex | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | Although XPD (A-751G), XRCC1 (A399G), and XRCC4 (G-1394T) gene polymorphisms hav... | BeFree | 25494482 | Detail |
| 0.080 | asphyxia neonatorum | NA | RGD | Detail | |
| <0.001 | Autoimmune Diseases | In a few cases, such as MAG polymorphism associated with psychological disorder ... | BeFree | 24841380 | Detail |
| 0.214 | Malignant neoplasm of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| 0.005 | azoospermia | NA | BeFree,GAD | Detail | |
| 0.014 | Carcinoma of lung | In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... | BeFree | 17531525 | Detail |
| <0.001 | Barrett esophagus | NA | BeFree | Detail | |
| <0.001 | Mental disorders | In a few cases, such as MAG polymorphism associated with psychological disorder ... | BeFree | 24841380 | Detail |
| 0.002 | Biliary Tract Neoplasm | NA | GAD | Detail | |
| 0.084 | Malignant neoplasm of urinary bladder | Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in... | BeFree,GAD | 25089939 | Detail |
| 0.128 | Bladder Neoplasm | NA | BeFree,CTD_human,LHGDN | Detail | |
| 0.002 | Bone neoplasms | NA | GAD | Detail | |
| 0.003 | Brain Neoplasms | NA | BeFree,GAD | Detail | |
| 0.084 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.002 | Breast Diseases | NA | GAD | Detail | |
| 0.002 | Burkitt lymphoma | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of larynx | NA | BeFree,GAD | Detail | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
| 0.017 | basal cell carcinoma | NA | GAD,LHGDN | Detail | |
| 0.005 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| 0.005 | renal cell carcinoma | NA | BeFree,GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigme... | DisGeNET | Detail |
| The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-C... | DisGeNET | Detail |
| Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Chinese population. | DisGeNET | Detail |
| Our results confirmed that polymorphisms in XPC and XPD may be associated with the risk of colorecta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Pooling data and DNA specimens from three case-control studies in western Washington State, North Ca... | DisGeNET | Detail |
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| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), ... | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
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| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung ... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gl... | DisGeNET | Detail |
| Contribution of XPD (Lys751Gln) and XRCC1 (Arg399Gln) polymorphisms in familial and sporadic breast ... | DisGeNET | Detail |
| Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... | DisGeNET | Detail |
| We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... | DisGeNET | Detail |
| Significantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in pat... | DisGeNET | Detail |
| Association between polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln genes and prognosis of colore... | DisGeNET | Detail |
| Lys751Gln XPD and Arg399Gln XRCC1 in Romanians. Association with sporadic colorectal cancer risk and... | DisGeNET | Detail |
| This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gl... | DisGeNET | Detail |
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| XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: a meta-analysis. | DisGeNET | Detail |
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| Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very ra... | DisGeNET | Detail |
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| Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigme... | DisGeNET | Detail |
| The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-C... | DisGeNET | Detail |
| Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinica... | DisGeNET | Detail |
| TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb... | DisGeNET | Detail |
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| To further grasp the molecular mechanisms that govern transcription, we focused our attention on the... | DisGeNET | Detail |
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| We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94;... | DisGeNET | Detail |
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| Potentially functional polymorphisms in the ERCC2 gene and risk of esophageal squamous cell carcinom... | DisGeNET | Detail |
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| Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinica... | DisGeNET | Detail |
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| We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94;... | DisGeNET | Detail |
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| Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in Belarus. | DisGeNET | Detail |
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| Association of ERCC1 and ERCC2 polymorphisms with colorectal cancer risk in a Chinese population. | DisGeNET | Detail |
| Our results confirmed that polymorphisms in XPC and XPD may be associated with the risk of colorecta... | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... | DisGeNET | Detail |
| Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very ra... | DisGeNET | Detail |
| Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy. | DisGeNET | Detail |
| Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigme... | DisGeNET | Detail |
| Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinica... | DisGeNET | Detail |
| TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... | DisGeNET | Detail |
| We examined the association between PC risk with nonsynonymous SNPs (nsSNPs) in 5 genes involved in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Polymorphic variants of base excision repair (APE1-D148E, XRCC1-R194W, XRCC1-R399Q and OGG1-S326C), ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| The aim of this study was to investigate the relationship between AP-endonuclease-1 (Asp148Glu), XRC... | DisGeNET | Detail |
| A weak association between XPD exon 6 silent C/A polymorphism and BCC development risk was found whe... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559), a protein required ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| Although XPD (A-751G), XRCC1 (A399G), and XRCC4 (G-1394T) gene polymorphisms have been extensively i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In a few cases, such as MAG polymorphism associated with psychological disorder and CD22 polymorphis... | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In a few cases, such as MAG polymorphism associated with psychological disorder and CD22 polymorphis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in Belarus. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1052559 dbSNP
- Genome
- hg38
- Position
- chr19:45,349,837-45,370,588
- Variant Type
- snv
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