chr15:45384848:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr15:45,384,848-45,406,370
hg38 chr15:45,092,650-45,114,172 

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 colitis NA BeFree Detail
<0.001 ulcerative colitis NA BeFree Detail
0.131 congenital hypothyroidism Because the relationships between DUOX2 genotypes and clinical phenotypes are ex... BeFree,CTD_human,LHGDN 24735383 Detail
0.131 congenital hypothyroidism Our findings demonstrate that changing the highly conserved valine 674 in Duox2 ... BeFree,CTD_human,LHGDN 24853759 Detail
0.131 congenital hypothyroidism High frequency of DUOX2 mutations in transient or permanent congenital hypothyro... BeFree,CTD_human,LHGDN 25248169 Detail
<0.001 Crohn Disease NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
0.001 goiter Because the relationships between DUOX2 genotypes and clinical phenotypes are ex... BeFree 24735383 Detail
0.002 chronic granulomatous disease Chronic granulomatous disease (CGD), a rare inherited disorder of the innate imm... BeFree 24446915 Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
0.003 HIV Infections NA BeFree,GAD Detail
<0.001 Hypertensive disease NA BeFree Detail
0.002 hypothyroidism Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutat... BeFree 24735383 Detail
0.002 hypothyroidism Therefore, the coexistence of a heterozygous TSHR mutation and a heterozygous DU... BeFree 25928756 Detail
<0.001 Inflammatory Bowel Diseases Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gas... BeFree 25818486 Detail
<0.001 influenza The Induction of Pattern-Recognition Receptor Expression against Influenza A Vir... BeFree 25751630 Detail
<0.001 ischemia NA BeFree Detail
<0.001 leukemia NA BeFree Detail
<0.001 listeriosis NA BeFree Detail
0.002 liver cirrhosis NA GAD Detail
0.003 Chronic Obstructive Airway Disease NA BeFree,LHGDN Detail
0.003 Lung Neoplasms NA LHGDN Detail
<0.001 Malignant neoplasm of stomach Contribution of Dual Oxidase 2 (DUOX2) to Hyper-Radiosensitivity in Human Gastri... BeFree 26207686 Detail
<0.001 multiple sclerosis NA BeFree Detail
<0.001 Mycoses Chronic granulomatous disease (CGD), a rare inherited disorder of the innate imm... BeFree 24446915 Detail
<0.001 Pancreatitis, Chronic Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gas... BeFree 25818486 Detail
<0.001 renal fibrosis These include strategies targeting chemokine pathways via CC chemokine receptors... BeFree 25176603 Detail
<0.001 Follicular thyroid carcinoma NA BeFree Detail
<0.001 pancreatic carcinoma Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gas... BeFree 25818486 Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Subclinical hypothyroidism NA BeFree Detail
<0.001 Iodide transport defect Mutations in 7 genes are well described causing iodine transport defect (SLC5A5)... BeFree 25231445 Detail
<0.001 Pendred's syndrome NA BeFree Detail
0.006 Endemic Cretinism Because the relationships between DUOX2 genotypes and clinical phenotypes are ex... BeFree 24735383 Detail
0.006 Endemic Cretinism Our findings demonstrate that changing the highly conserved valine 674 in Duox2 ... BeFree 24853759 Detail
0.006 Endemic Cretinism High frequency of DUOX2 mutations in transient or permanent congenital hypothyro... BeFree 25248169 Detail
<0.001 Congenital goiter NA BeFree Detail
<0.001 Thyroid carcinoma NA BeFree Detail
0.002 hepatopulmonary syndrome NA GAD Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 stomach carcinoma Contribution of Dual Oxidase 2 (DUOX2) to Hyper-Radiosensitivity in Human Gastri... BeFree 26207686 Detail
<0.001 Multiple Sclerosis, Relapsing-Remitting NA BeFree Detail
<0.001 Endothelial dysfunction NA BeFree Detail
<0.001 Cerebral Aneurysm NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 Neuropathogenesis NA BeFree Detail
<0.001 liver carcinoma PKCα promotes generation of reactive oxygen species via DUOX2 in hepatocellular ... BeFree 26056003 Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, how... DisGeNET Detail
Our findings demonstrate that changing the highly conserved valine 674 in Duox2 leads to impaired su... DisGeNET Detail
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, how... DisGeNET Detail
Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase... DisGeNET Detail
Therefore, the coexistence of a heterozygous TSHR mutation and a heterozygous DUOX2 mutation may hav... DisGeNET Detail
Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gastrointestinal tract ... DisGeNET Detail
The Induction of Pattern-Recognition Receptor Expression against Influenza A Virus through Duox2-Der... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Contribution of Dual Oxidase 2 (DUOX2) to Hyper-Radiosensitivity in Human Gastric Cancer Cells. DisGeNET Detail
NA DisGeNET Detail
Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results ... DisGeNET Detail
Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gastrointestinal tract ... DisGeNET Detail
These include strategies targeting chemokine pathways via CC chemokine receptors 1 and 2 to modulate... DisGeNET Detail
NA DisGeNET Detail
Recent evidence suggests that both NOX1 and DUOX2 species produce ROS in the gastrointestinal tract ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in 7 genes are well described causing iodine transport defect (SLC5A5), iodine organificat... DisGeNET Detail
NA DisGeNET Detail
Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, how... DisGeNET Detail
Our findings demonstrate that changing the highly conserved valine 674 in Duox2 leads to impaired su... DisGeNET Detail
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Contribution of Dual Oxidase 2 (DUOX2) to Hyper-Radiosensitivity in Human Gastric Cancer Cells. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
PKCα promotes generation of reactive oxygen species via DUOX2 in hepatocellular carcinoma. DisGeNET Detail
NA DisGeNET Detail

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
-
Genome
hg19
Position
chr15:45,384,848-45,406,370
Variant Type
snv
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