chr2:233760270:> Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:234,668,916-234,681,946 |
hg38 | chr2:233,760,270-233,773,300 |
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 |
---|---|---|---|---|---|
<0.001 | squamous cell carcinoma | NA | BeFree | Detail | |
0.004 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
0.002 | brain ischemia | NA | GAD | Detail | |
0.002 | Uterine Cervical Neoplasm | NA | GAD | Detail | |
0.036 | cholelithiasis | Both patients developed gallstones; however the father, who had undergone surger... | BeFree,GAD,LHGDN | 25153905 | Detail |
0.036 | cholelithiasis | UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-relate... | BeFree,GAD,LHGDN | 26039129 | Detail |
0.003 | ulcerative colitis | NA | BeFree,GAD | Detail | |
0.008 | Colonic Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
0.008 | colorectal carcinoma | UGT1A levels in tumor tissues may be a suitable predictive biomarker to stratify... | BeFree | 25210794 | Detail |
0.008 | colorectal carcinoma | Influence of UGT1A1 gene methylation level in colorectal cancer cells on the sen... | BeFree | 25260839 | Detail |
0.008 | colorectal carcinoma | We prospectively studied the relation between the UGT1A1 genotype and the safety... | BeFree | 25880011 | Detail |
0.022 | Colorectal Neoplasms | NA | GAD,LHGDN | Detail | |
0.002 | Connective Tissue Diseases | NA | GAD | Detail | |
0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
0.001 | Coronary heart disease | NA | BeFree | Detail | |
0.262 | Crigler Najjar syndrome, type 1 | A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neon... | BeFree,CTD_human,LHGDN,UNIPROT | 25729974 | Detail |
<0.001 | Crohn Disease | NA | BeFree | Detail | |
0.003 | cystic fibrosis | NA | BeFree,LHGDN | Detail | |
0.002 | Deafness | NA | GAD | Detail | |
<0.001 | Dehydration | NA | BeFree | Detail | |
<0.001 | Hepatitis D Infection | NA | BeFree | Detail | |
0.120 | contact dermatitis | NA | CTD_human | Detail | |
<0.001 | Diabetes | NA | BeFree | Detail | |
<0.001 | diabetes mellitus | NA | BeFree | Detail | |
0.080 | Diabetes Mellitus, Insulin-Dependent | NA | RGD | Detail | |
0.005 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
0.016 | diarrhea | The UGT1A1 genotype was confirmed to be associated with increased risks of irino... | BeFree,GAD | 25880011 | Detail |
0.002 | DNA Damage | NA | GAD | Detail | |
0.005 | drug allergy | NA | GAD | Detail | |
0.002 | Duodenal Neoplasms | NA | GAD | Detail | |
0.010 | Endometrial Neoplasms | NA | GAD,LHGDN | Detail | |
0.002 | epilepsy | NA | GAD | Detail | |
0.003 | Esophageal Neoplasms | NA | BeFree,GAD | Detail | |
<0.001 | Fatigue | NA | BeFree | Detail | |
0.003 | Fatty Liver | We analyzed total bilirubin levels, which are linked to fatty liver in severe ob... | BeFree,GAD | 25246029 | Detail |
0.002 | Fetal Diseases | NA | GAD | Detail | |
0.005 | Gall Bladder Diseases | NA | BeFree,GAD,LHGDN | Detail | |
0.295 | Gilbert Disease (disorder) | Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-e... | BeFree,CTD_human,GAD,UNIPROT | 23981182 | Detail |
0.295 | Gilbert Disease (disorder) | The high levels of bilirubin could be related to the co-inheritance of Gilbert s... | BeFree,CTD_human,GAD,UNIPROT | 24620945 | Detail |
0.295 | Gilbert Disease (disorder) | Although Gilbert's syndrome is usually quite benign UGT1A1(TA)n genotyping is im... | BeFree,CTD_human,GAD,UNIPROT | 24785582 | Detail |
0.295 | Gilbert Disease (disorder) | The relationship was strongest for heavy smokers (⩾20 cigarettes per day) at age... | BeFree,CTD_human,GAD,UNIPROT | 25086287 | Detail |
0.295 | Gilbert Disease (disorder) | Outcome and toxicities associated to chemotherapy in children with acute lymphob... | BeFree,CTD_human,GAD,UNIPROT | 25855413 | Detail |
0.295 | Gilbert Disease (disorder) | The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in... | BeFree,CTD_human,GAD,UNIPROT | 25887876 | Detail |
0.004 | breast carcinoma | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.028 | Malignant neoplasm of breast | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
0.002 | cardiac arrest | NA | BeFree | Detail | |
0.003 | Hemoglobinopathies | NA | BeFree,GAD | Detail | |
0.002 | Hemolysis (disorder) | NA | GAD | Detail | |
0.007 | HIV Infections | NA | BeFree,GAD | Detail | |
0.123 | Hodgkin Disease | NA | BeFree,CTD_human,GAD | Detail | |
0.223 | Hyperbilirubinemia | We have investigated the UGT1A1 polymorphism frequency and its relation to sever... | BeFree,CTD_human,GAD,LHGDN | 23981182 | Detail |
0.223 | Hyperbilirubinemia | FOLFIRI combined with bevacizumab as first-line treatment for metastatic colorec... | BeFree,CTD_human,GAD,LHGDN | 24642571 | Detail |
0.223 | Hyperbilirubinemia | Although Gilbert's syndrome is usually quite benign UGT1A1(TA)n genotyping is im... | BeFree,CTD_human,GAD,LHGDN | 24785582 | Detail |
0.223 | Hyperbilirubinemia | Influence of UGT1A1 6, 27, and 28 polymorphisms on nilotinib-induced hyperbiliru... | BeFree,CTD_human,GAD,LHGDN | 24898899 | Detail |
0.223 | Hyperbilirubinemia | Association of UGT1A1 variants and hyperbilirubinemia in breast-fed full-term Ch... | BeFree,CTD_human,GAD,LHGDN | 25102181 | Detail |
0.223 | Hyperbilirubinemia | We previously reported that maximal body weight loss (inadequate feeding) is an ... | BeFree,CTD_human,GAD,LHGDN | 25391605 | Detail |
0.223 | Hyperbilirubinemia | Using an exome-wide approach we identified coding variants on UGT1A1 and UGT1A6 ... | BeFree,CTD_human,GAD,LHGDN | 26039129 | Detail |
0.002 | Hyperbilirubinemia, Hereditary | NA | GAD | Detail | |
0.003 | Hypercholesterolemia | NA | BeFree,GAD | Detail | |
0.080 | hyperthyroidism | NA | RGD | Detail | |
0.005 | Inflammation | NA | GAD | Detail | |
<0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
<0.001 | influenza | NA | BeFree | Detail | |
0.003 | intermittent claudication | NA | BeFree,GAD | Detail | |
0.002 | Intestinal Polyps | NA | GAD | Detail | |
0.005 | Icterus | NA | GAD | Detail | |
0.014 | neonatal jaundice | NA | BeFree,GAD | Detail | |
0.124 | kernicterus | Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbiliru... | BeFree,CTD_human,LHGDN | 25315738 | Detail |
0.002 | Kidney Neoplasm | NA | GAD | Detail | |
0.002 | leukemia | NA | GAD | Detail | |
<0.001 | Acute lymphocytic leukemia | UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish ca... | BeFree | 25105254 | Detail |
<0.001 | Acute lymphocytic leukemia | Outcome and toxicities associated to chemotherapy in children with acute lymphob... | BeFree | 25855413 | Detail |
<0.001 | Myeloid Leukemia, Chronic | Influence of UGT1A1 6, 27, and 28 polymorphisms on nilotinib-induced hyperbiliru... | BeFree | 24898899 | Detail |
0.013 | leukopenia | The most common grade 4 adverse event in patients with the UGT1A1*6 genotypes wa... | BeFree | 25055799 | Detail |
0.013 | leukopenia | The UGT1A1 genotype was confirmed to be associated with increased risks of irino... | BeFree | 25880011 | Detail |
0.008 | Liver diseases | NA | BeFree,GAD | Detail | |
<0.001 | Liver neoplasms | NA | BeFree | Detail | |
0.002 | Lung Neoplasms | NA | GAD | Detail | |
0.001 | Malignant neoplasm of stomach | Differential expression of the UGT1A family of genes in stomach cancer tissues. | BeFree | 25712374 | Detail |
0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
0.003 | myocardial infarction | NA | BeFree,GAD | Detail | |
0.005 | Neoplasm Metastasis | NA | BeFree,GAD,LHGDN | Detail | |
0.147 | neutropenia | The most common grade 4 adverse event in patients with the UGT1A1*6 genotypes wa... | BeFree,CTD_human,GAD | 25055799 | Detail |
0.147 | neutropenia | The UGT1A1 genotype was confirmed to be associated with increased risks of irino... | BeFree,CTD_human,GAD | 25880011 | Detail |
0.003 | obesity | Body fat percentage is a major determinant of total bilirubin independently of U... | BeFree,GAD | 24901842 | Detail |
0.003 | obesity | Our study demonstrates that reduced hepatic Ugt1a activity during obesity likely... | BeFree,GAD | 26334566 | Detail |
<0.001 | Obesity, Morbid | We analyzed total bilirubin levels, which are linked to fatty liver in severe ob... | BeFree | 25246029 | Detail |
0.002 | Osteoporosis, Postmenopausal | NA | GAD | Detail | |
<0.001 | ovarian carcinoma | NA | BeFree | Detail | |
0.002 | Adenomatous Polyposis Coli | NA | GAD | Detail | |
<0.001 | Precancerous Conditions | NA | BeFree | Detail | |
0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
<0.001 | Seizures | NA | BeFree | Detail | |
<0.001 | Septicemia | NA | BeFree | Detail | |
<0.001 | siderosis | Both patients developed gallstones; however the father, who had undergone surger... | BeFree | 25153905 | Detail |
0.002 | Dermatologic disorders | NA | GAD | Detail | |
0.004 | hereditary spherocytosis | NA | BeFree,LHGDN | Detail | |
0.080 | Starvation | NA | RGD | Detail | |
0.002 | Stomach Neoplasms | NA | GAD | Detail | |
0.003 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
0.008 | thalassemia | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | tuberculosis | NA | BeFree | Detail | |
0.120 | Adverse reaction to drug | NA | CTD_human | Detail | |
0.002 | Genitourinary Neoplasms | NA | GAD | Detail | |
0.028 | Malignant neoplasm of breast | However, when this relation was assessed within strata based on estrogen-related... | BeFree | 22199302 | Detail |
0.003 | Mammographic Density | However, when this relation was assessed within strata based on estrogen-related... | BeFree | 22199302 | Detail |
0.004 | breast carcinoma | However, when this relation was assessed within strata based on estrogen-related... | BeFree | 22199302 | Detail |
<0.001 | Small cell carcinoma of lung | Irinotecan showed efficacy in patients with recurrent and refractory SCLC; UGT1A... | BeFree | 25450281 | Detail |
0.007 | Premature Birth | NA | GAD | Detail | |
<0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
<0.001 | esophageal carcinoma | NA | BeFree | Detail | |
<0.001 | Malignant tumor of small intestine | NA | BeFree | Detail | |
<0.001 | Liver Failure, Acute | NA | BeFree | Detail | |
0.004 | Aortic Aneurysm, Thoracic | NA | BeFree | Detail | |
<0.001 | cholangiocarcinoma | NA | BeFree | Detail | |
<0.001 | Rotor syndrome | NA | BeFree | Detail | |
<0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
<0.001 | small intestine carcinoma | NA | BeFree | Detail | |
0.005 | Biliary calculi | NA | LHGDN | Detail | |
0.012 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
0.002 | multiple chemical sensitivity | NA | GAD | Detail | |
<0.001 | Sepsis | NA | BeFree | Detail | |
0.120 | Carcinoma, Small Cell | NA | CTD_human | Detail | |
<0.001 | Chronic heart failure | NA | BeFree | Detail | |
0.010 | Unconjugated hyperbilirubinemia | Gilbert's syndrome is one of the most common metabolic syndromes in the human po... | BeFree | 24785582 | Detail |
0.010 | Unconjugated hyperbilirubinemia | The enzyme uridine diphosphate glucuronosyltransferase polypeptide 1A1 (UGT1A1) ... | BeFree | 25086287 | Detail |
0.010 | Unconjugated hyperbilirubinemia | Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbiliru... | BeFree | 25315738 | Detail |
0.010 | Unconjugated hyperbilirubinemia | Our result suggests an important role for homozygous c.558C>A mutations in the U... | BeFree | 25729974 | Detail |
0.360 | Lucey-Driscoll syndrome (disorder) | NA | CTD_human,ORPHANET,UNIPROT | Detail | |
<0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
<0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
<0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
<0.001 | Solid tumour | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
0.004 | Malignant neoplasm of prostate | The UGT1 locus is a determinant of prostate cancer recurrence after prostatectom... | BeFree,GAD | 25452636 | Detail |
<0.001 | nephrolithiasis | This is the first known study to identify the association between SNPs in the UG... | BeFree | 25151207 | Detail |
<0.001 | Dysequilibrium syndrome | NA | BeFree | Detail | |
<0.001 | Non-alcoholic Fatty Liver Disease | NA | BeFree | Detail | |
0.008 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
<0.001 | Metabolic syndrome X | Gilbert's syndrome is one of the most common metabolic syndromes in the human po... | BeFree | 24785582 | Detail |
<0.001 | Hepatitis C, Chronic | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
<0.001 | Neonatal unconjugated hyperbilirubinemia | NA | BeFree | Detail | |
<0.001 | Factor V Leiden mutation | NA | BeFree | Detail | |
<0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
0.001 | Carcinogenesis | NA | BeFree | Detail | |
0.001 | prostate carcinoma | The UGT1 locus is a determinant of prostate cancer recurrence after prostatectom... | BeFree | 25452636 | Detail |
0.004 | breast carcinoma | Therefore, we aimed to investigate possible associations between germline geneti... | BeFree | 25648141 | Detail |
0.001 | colon carcinoma | NA | BeFree | Detail | |
0.001 | stomach carcinoma | Differential expression of the UGT1A family of genes in stomach cancer tissues. | BeFree | 25712374 | Detail |
<0.001 | Malignant Female Reproductive System Neoplasm | NA | BeFree | Detail | |
0.003 | choledocholithiasis | NA | BeFree,GAD | Detail | |
<0.001 | Premenopausal breast cancer | NA | BeFree | Detail | |
<0.001 | Febrile Neutropenia | NA | BeFree | Detail | |
<0.001 | Arteriopathic disease | NA | BeFree | Detail | |
<0.001 | Colorectal cancer recurrent | Previous reports of the influence of UGT1A1 gene polymorphisms on the pharmacoki... | BeFree | 24382596 | Detail |
<0.001 | Pancreatic carcinoma non-resectable | In particular, we focus on Abstract #4124, which investigated the potential pred... | BeFree | 25076337 | Detail |
<0.001 | Diffuse large B-cell lymphoma refractory | UGT1A1 *6 polymorphism predicts outcome in elderly patients with relapsed or ref... | BeFree | 25055799 | Detail |
0.049 | Hyperbilirubinemia, Neonatal | Our findings added to the understanding of the significance of UGT1A1 in associa... | BeFree,GAD,LHGDN | 25102181 | Detail |
0.049 | Hyperbilirubinemia, Neonatal | Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or ... | BeFree,GAD,LHGDN | 25391605 | Detail |
0.049 | Hyperbilirubinemia, Neonatal | Role of extrahepatic UDP-glucuronosyltransferase 1A1: Advances in understanding ... | BeFree,GAD,LHGDN | 26342858 | Detail |
0.002 | Drug-Induced Liver Injury | NA | GAD | Detail | |
0.005 | ovarian neoplasm | NA | GAD,LHGDN | Detail | |
0.008 | cholecystolithiasis | Both patients developed gallstones; however the father, who had undergone surger... | BeFree,GAD | 25153905 | Detail |
0.008 | cholecystolithiasis | UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-relate... | BeFree,GAD | 26039129 | Detail |
0.008 | Colorectal cancer metastatic | To report a metastatic colorectal cancer patient with hyperbilirubinemia treated... | BeFree | 24642571 | Detail |
0.008 | Colorectal cancer metastatic | A phase I study of UGT1A1 *28/*6 genotype-directed dosing of irinotecan (CPT-11)... | BeFree | 25427841 | Detail |
0.006 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
0.002 | Gastrointestinal toxicity | NA | GAD | Detail | |
0.002 | Mammographic breast density | NA | GAD | Detail | |
0.002 | Adenoma of large intestine | NA | GAD | Detail | |
<0.001 | Classical Hodgkin's Lymphoma | The number of association studies on cHL prognosis is limited with one consisten... | BeFree | 25205514 | Detail |
<0.001 | differentiated thyroid gland carcinoma | UGT1A haplotypes associate with T4 dosage in DTC patients, but the effect accoun... | BeFree | 24910925 | Detail |
0.002 | hearing impairment | NA | GAD | Detail | |
0.002 | Severe diarrhea | NA | BeFree | Detail | |
<0.001 | alpha^+^ Thalassemia | NA | BeFree | Detail | |
0.006 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
<0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
0.053 | colorectal cancer | UGT1A levels in tumor tissues may be a suitable predictive biomarker to stratify... | BeFree,GAD | 25210794 | Detail |
0.053 | colorectal cancer | Influence of UGT1A1 gene methylation level in colorectal cancer cells on the sen... | BeFree,GAD | 25260839 | Detail |
0.053 | colorectal cancer | We prospectively studied the relation between the UGT1A1 genotype and the safety... | BeFree,GAD | 25880011 | Detail |
0.003 | Mammographic Density | NA | BeFree,GAD | Detail | |
<0.001 | uterine corpus cancer | NA | BeFree | Detail | |
0.008 | coronary artery disease | NA | BeFree,GAD | Detail | |
0.003 | Precursor Cell Lymphoblastic Leukemia Lymphoma | UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish ca... | BeFree,LHGDN | 25105254 | Detail |
0.003 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Outcome and toxicities associated to chemotherapy in children with acute lymphob... | BeFree,LHGDN | 25855413 | Detail |
0.004 | liver carcinoma | NA | BeFree,GAD | Detail | |
0.120 | Acute kidney injury | NA | CTD_human | Detail | |
0.001 | SPHEROCYTOSIS, TYPE 1 (disorder) | NA | BeFree | Detail | |
0.009 | Deficiency of glucose-6-phosphate dehydrogenase | NA | BeFree,GAD | Detail | |
<0.001 | Breastfeeding Jaundice | NA | BeFree | Detail | |
0.002 | Infection | NA | GAD | Detail | |
<0.001 | Lymphoblastic leukemia in children | UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish ca... | BeFree | 25105254 | Detail |
0.002 | Hearing Loss | NA | GAD | Detail | |
<0.001 | Abdominal Pain | NA | BeFree | Detail | |
0.003 | acromegaly | NA | BeFree,GAD | Detail | |
<0.001 | adenocarcinoma | NA | BeFree | Detail | |
<0.001 | adenoma | NA | BeFree | Detail | |
0.002 | agranulocytosis | NA | GAD | Detail | |
0.003 | alpha-Thalassemia | NA | BeFree,GAD | Detail | |
<0.001 | anemia | NA | BeFree | Detail | |
<0.001 | Cooley's anemia | NA | BeFree | Detail | |
0.001 | Anemia, Hemolytic | NA | BeFree | Detail | |
0.029 | Anemia, Sickle Cell | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | asthma | A study of 41 patients, 78% (32/41) of whom were non-Hispanic whites, with mild ... | BeFree | 25192553 | Detail |
0.002 | atherosclerosis | NA | GAD | Detail | |
0.003 | beta thalassemia | NA | BeFree,GAD | Detail | |
<0.001 | borderline personality disorder | NA | BeFree | Detail | |
0.028 | Malignant neoplasm of breast | Therefore, we aimed to investigate possible associations between germline geneti... | BeFree,GAD | 25648141 | Detail |
<0.001 | bronchopulmonary dysplasia | NA | BeFree | Detail | |
0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
<0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
0.003 | Non-small cell lung carcinoma | NA | BeFree,GAD | Detail | |
0.002 | renal cell carcinoma | NA | GAD | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Both patients developed gallstones; however the father, who had undergone surgery for the removal of... | DisGeNET | Detail |
UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-related cholecystectomy ri... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
UGT1A levels in tumor tissues may be a suitable predictive biomarker to stratify CRC patients for ga... | DisGeNET | Detail |
Influence of UGT1A1 gene methylation level in colorectal cancer cells on the sensitivity of the chem... | DisGeNET | Detail |
We prospectively studied the relation between the UGT1A1 genotype and the safety of irinotecan-based... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Naj... | 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 |
The UGT1A1 genotype was confirmed to be associated with increased risks of irinotecan-induced grade ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We analyzed total bilirubin levels, which are linked to fatty liver in severe obesity, and observed ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of... | DisGeNET | Detail |
The high levels of bilirubin could be related to the co-inheritance of Gilbert syndrome determined e... | DisGeNET | Detail |
Although Gilbert's syndrome is usually quite benign UGT1A1(TA)n genotyping is important in exclusion... | DisGeNET | Detail |
The relationship was strongest for heavy smokers (⩾20 cigarettes per day) at age 53 with mean FEV1 4... | DisGeNET | Detail |
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and ... | DisGeNET | Detail |
The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promote... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We have investigated the UGT1A1 polymorphism frequency and its relation to severity of hyperbilirubi... | DisGeNET | Detail |
FOLFIRI combined with bevacizumab as first-line treatment for metastatic colorectal cancer patients ... | DisGeNET | Detail |
Although Gilbert's syndrome is usually quite benign UGT1A1(TA)n genotyping is important in exclusion... | DisGeNET | Detail |
Influence of UGT1A1 6, 27, and 28 polymorphisms on nilotinib-induced hyperbilirubinemia in Japanese ... | DisGeNET | Detail |
Association of UGT1A1 variants and hyperbilirubinemia in breast-fed full-term Chinese infants. | DisGeNET | Detail |
We previously reported that maximal body weight loss (inadequate feeding) is an independent risk fac... | DisGeNET | Detail |
Using an exome-wide approach we identified coding variants on UGT1A1 and UGT1A6 genes in association... | 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 |
Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to muta... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish case-control study. | DisGeNET | Detail |
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and ... | DisGeNET | Detail |
Influence of UGT1A1 6, 27, and 28 polymorphisms on nilotinib-induced hyperbilirubinemia in Japanese ... | DisGeNET | Detail |
The most common grade 4 adverse event in patients with the UGT1A1*6 genotypes was neutropenia (88.9%... | DisGeNET | Detail |
The UGT1A1 genotype was confirmed to be associated with increased risks of irinotecan-induced grade ... | DisGeNET | Detail |
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Differential expression of the UGT1A family of genes in stomach cancer tissues. | DisGeNET | Detail |
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The most common grade 4 adverse event in patients with the UGT1A1*6 genotypes was neutropenia (88.9%... | DisGeNET | Detail |
The UGT1A1 genotype was confirmed to be associated with increased risks of irinotecan-induced grade ... | DisGeNET | Detail |
Body fat percentage is a major determinant of total bilirubin independently of UGT1A1*28 polymorphis... | DisGeNET | Detail |
Our study demonstrates that reduced hepatic Ugt1a activity during obesity likely contributes to redu... | DisGeNET | Detail |
We analyzed total bilirubin levels, which are linked to fatty liver in severe obesity, and observed ... | DisGeNET | Detail |
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Both patients developed gallstones; however the father, who had undergone surgery for the removal of... | DisGeNET | Detail |
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However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... | DisGeNET | Detail |
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... | DisGeNET | Detail |
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... | DisGeNET | Detail |
Irinotecan showed efficacy in patients with recurrent and refractory SCLC; UGT1A1 FNx01 28 polymorph... | DisGeNET | Detail |
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Gilbert's syndrome is one of the most common metabolic syndromes in the human population characteris... | DisGeNET | Detail |
The enzyme uridine diphosphate glucuronosyltransferase polypeptide 1A1 (UGT1A1) is solely responsibl... | DisGeNET | Detail |
Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to muta... | DisGeNET | Detail |
Our result suggests an important role for homozygous c.558C>A mutations in the UGT1A1 gene in the de... | DisGeNET | Detail |
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The UGT1 locus is a determinant of prostate cancer recurrence after prostatectomy. | DisGeNET | Detail |
This is the first known study to identify the association between SNPs in the UGT1A-3'-UTR and ataza... | DisGeNET | Detail |
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Gilbert's syndrome is one of the most common metabolic syndromes in the human population characteris... | DisGeNET | Detail |
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The UGT1 locus is a determinant of prostate cancer recurrence after prostatectomy. | DisGeNET | Detail |
Therefore, we aimed to investigate possible associations between germline genetic polymorphisms with... | DisGeNET | Detail |
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Differential expression of the UGT1A family of genes in stomach cancer tissues. | DisGeNET | Detail |
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Previous reports of the influence of UGT1A1 gene polymorphisms on the pharmacokinetics of irinotecan... | DisGeNET | Detail |
In particular, we focus on Abstract #4124, which investigated the potential predictive role of human... | DisGeNET | Detail |
UGT1A1 *6 polymorphism predicts outcome in elderly patients with relapsed or refractory diffuse larg... | DisGeNET | Detail |
Our findings added to the understanding of the significance of UGT1A1 in association with neonatal h... | DisGeNET | Detail |
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms. | DisGeNET | Detail |
Role of extrahepatic UDP-glucuronosyltransferase 1A1: Advances in understanding breast milk-induced ... | DisGeNET | Detail |
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Both patients developed gallstones; however the father, who had undergone surgery for the removal of... | DisGeNET | Detail |
UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-related cholecystectomy ri... | DisGeNET | Detail |
To report a metastatic colorectal cancer patient with hyperbilirubinemia treated with a combination ... | DisGeNET | Detail |
A phase I study of UGT1A1 *28/*6 genotype-directed dosing of irinotecan (CPT-11) in Korean patients ... | DisGeNET | Detail |
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The number of association studies on cHL prognosis is limited with one consistent association for th... | DisGeNET | Detail |
UGT1A haplotypes associate with T4 dosage in DTC patients, but the effect accounts for only 2% of th... | DisGeNET | Detail |
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UGT1A levels in tumor tissues may be a suitable predictive biomarker to stratify CRC patients for ga... | DisGeNET | Detail |
Influence of UGT1A1 gene methylation level in colorectal cancer cells on the sensitivity of the chem... | DisGeNET | Detail |
We prospectively studied the relation between the UGT1A1 genotype and the safety of irinotecan-based... | DisGeNET | Detail |
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UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish case-control study. | DisGeNET | Detail |
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and ... | DisGeNET | Detail |
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UGT1A1*28 polymorphism and acute lymphoblastic leukemia in children: a Danish case-control study. | DisGeNET | Detail |
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A study of 41 patients, 78% (32/41) of whom were non-Hispanic whites, with mild to moderate asthma i... | DisGeNET | Detail |
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Therefore, we aimed to investigate possible associations between germline genetic polymorphisms with... | DisGeNET | Detail |
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Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs8175347 dbSNP
- Genome
- hg38
- Position
- chr2:233,760,270-233,773,300
- Variant Type
- snv
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