chr11:57365036:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:57,365,036-57,386,632
hg38 chr11:57,597,563-57,619,159 

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
0.002 Choroid Diseases NA GAD Detail
<0.001 Congenital chromosomal disease NA BeFree Detail
<0.001 Exanthema NA BeFree Detail
<0.001 Guillain-Barre syndrome NA BeFree Detail
0.163 Angioedemas, Hereditary The inherited deficiency of C1-inhibitor (C1-INH), which can be quantitative (ty... BeFree,CTD_human,LHGDN 24552232 Detail
0.163 Angioedemas, Hereditary Expression of the SERPING1 gene is not regulated by promoter hypermethylation in... BeFree,CTD_human,LHGDN 25053016 Detail
0.163 Angioedemas, Hereditary The FXII-HAE is associated with modifiers, for example kinin catabolism enzymes,... BeFree,CTD_human,LHGDN 25134986 Detail
0.163 Angioedemas, Hereditary In conclusion, we demonstrate that C1-inh polymers are present in the plasma of ... BeFree,CTD_human,LHGDN 25369003 Detail
0.163 Angioedemas, Hereditary However, since the first identification of autosomal recessive (AR), X-linked re... BeFree,CTD_human,LHGDN 25645939 Detail
0.163 Angioedemas, Hereditary Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency in ... BeFree,CTD_human,LHGDN 25689810 Detail
0.163 Angioedemas, Hereditary Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysf... BeFree,CTD_human,LHGDN 25758562 Detail
0.163 Angioedemas, Hereditary We report for the first time in Brazil a mutation in the F12 gene as a likely ca... BeFree,CTD_human,LHGDN 25790805 Detail
0.163 Angioedemas, Hereditary The C1-inh polymers might play a role in the pathophysiology of HAE, but several... BeFree,CTD_human,LHGDN 25800206 Detail
0.163 Angioedemas, Hereditary HAE type I occurred in 99 patients (57.9%), HAE type II occurred in 9 patients (... BeFree,CTD_human,LHGDN 25872948 Detail
0.003 Inflammation NA LHGDN Detail
0.120 influenza NA CTD_human Detail
0.001 Liver neoplasms NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
0.120 lupus nephritis NA CTD_human Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
<0.001 macular degeneration Therefore, the results of our study and meta-analysis suggest that SERPING1 is n... BeFree 25800435 Detail
0.003 Meningococcal Infections NA BeFree,GAD Detail
<0.001 myocardial infarction NA BeFree Detail
<0.001 neuroblastoma NA BeFree Detail
0.002 otitis media NA GAD Detail
<0.001 pulmonary emphysema NA BeFree Detail
<0.001 Septicemia NA BeFree Detail
0.001 urticaria Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency in ... BeFree 25689810 Detail
0.001 urticaria Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent... BeFree 25758562 Detail
<0.001 anterior uveitis NA BeFree Detail
0.003 vasculitis NA BeFree,LHGDN Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 Squamous cell carcinoma of lung NA BeFree Detail
<0.001 pelvic inflammatory disease However, since the first identification of autosomal recessive (AR), X-linked re... BeFree 25645939 Detail
<0.001 Sepsis NA BeFree Detail
<0.001 chronic urticaria NA BeFree Detail
0.080 Pancreatitis, Acute Necrotizing NA RGD Detail
<0.001 Exudative age-related macular degeneration NA BeFree Detail
<0.001 Restenosis NA BeFree Detail
<0.001 Acute edema NA BeFree Detail
<0.001 Senile Plaques NA BeFree Detail
0.120 Hereditary C1 esterase inhibitor deficiency - deficient factor NA ORPHANET Detail
0.120 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor NA ORPHANET Detail
<0.001 neuropathy NA BeFree Detail
<0.001 Oropharynx (excludes nasopharynx) NA BeFree Detail
0.002 Choroidal Neovascularization NA GAD Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Acute anterior uveitis NA BeFree Detail
<0.001 allergic symptom NA BeFree Detail
0.002 Malignant neoplasm of ovary NA GAD Detail
0.120 Complement Component 4, Partial Deficiency Of NA CTD_human Detail
<0.001 Vasculitic neuropathy NA BeFree Detail
0.001 liver carcinoma NA BeFree Detail
0.120 Hereditary Angioedema Types I and II NA CTD_human Detail
0.361 hereditary angioedema type I SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibi... BeFree,CLINVAR,ORPHANET,UNIPROT 25053016 Detail
0.122 acquired angioedema NA BeFree,CTD_human Detail
<0.001 Plaque, Amyloid NA BeFree Detail
<0.001 Abdominal Pain We report for the first time in Brazil a mutation in the F12 gene as a likely ca... BeFree 25790805 Detail
<0.001 Airway Obstruction NA BeFree Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 asthma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The inherited deficiency of C1-inhibitor (C1-INH), which can be quantitative (type I) or qualitative... DisGeNET Detail
Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mo... DisGeNET Detail
The FXII-HAE is associated with modifiers, for example kinin catabolism enzymes, ACE and CPN, differ... DisGeNET Detail
In conclusion, we demonstrate that C1-inh polymers are present in the plasma of a subgroup of HAE ty... DisGeNET Detail
However, since the first identification of autosomal recessive (AR), X-linked recessive (XR) and AD ... DisGeNET Detail
Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency in functional C1-estera... DisGeNET Detail
Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE ... DisGeNET Detail
We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with norm... DisGeNET Detail
The C1-inh polymers might play a role in the pathophysiology of HAE, but several diseases are charac... DisGeNET Detail
HAE type I occurred in 99 patients (57.9%), HAE type II occurred in 9 patients (5.3%), HAE with norm... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Therefore, the results of our study and meta-analysis suggest that SERPING1 is not a major genetic c... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Hereditary angioedema (HAE) is a rare genetic disease caused by a deficiency in functional C1-estera... DisGeNET Detail
Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent angioedema without ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
However, since the first identification of autosomal recessive (AR), X-linked recessive (XR) and AD ... 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficie... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with norm... DisGeNET Detail
NA DisGeNET Detail
NA 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
chr11:57,365,036-57,386,632
Variant Type
snv
Genome browser