chr20:43247246:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr20:43,247,246-43,280,893
hg38 chr20:44,618,605-44,652,252 

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 Cardiovascular Diseases Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) ... BeFree 24836059 Detail
<0.001 chordoma Overexpression of adenosine deaminase acting on RNA 1 in chordoma tissues is ass... BeFree 25673044 Detail
0.002 Colonic Neoplasms NA GAD Detail
0.003 Coronary Arteriosclerosis There have been reports of increased activity of the adenosine deaminase enzyme ... BeFree,GAD 24836059 Detail
<0.001 Coronary heart disease There have been reports of increased activity of the adenosine deaminase enzyme ... BeFree 24836059 Detail
0.003 Crohn Disease NA BeFree,GAD Detail
<0.001 Presenile dementia NA BeFree Detail
0.003 Diabetes Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) ... BeFree 24836059 Detail
0.003 Diabetes A rapid rise in the number and combinations of diabetes therapies coupled with a... BeFree 26390534 Detail
0.003 diabetes mellitus Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) ... BeFree 24836059 Detail
0.003 diabetes mellitus A rapid rise in the number and combinations of diabetes therapies coupled with a... BeFree 26390534 Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
0.009 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
0.324 SCID Due to ADA Deficiency, Early-Onset Mutant human adenosine deaminase alleles and their expression by transfection in... UNIPROT 3182793 Detail
0.324 SCID Due to ADA Deficiency, Early-Onset Novel splicing, missense, and deletion mutations in seven adenosine deaminase-de... UNIPROT 8227344 Detail
0.002 Fatigue NA GAD Detail
0.001 chronic granulomatous disease This review details gene therapy trials for X-linked and adenosine deaminase (AD... BeFree 24848753 Detail
0.003 Hemorrhage NA LHGDN Detail
0.002 hepatitis C NA GAD Detail
0.004 HIV Infections We compared gene delivery by the HIV-1-based vector to murine γ-retroviral vecto... BeFree 24925206 Detail
0.004 HIV Infections Adenosine deaminase acting on RNA-1 (ADAR1) inhibits HIV-1 replication in human ... BeFree 25272020 Detail
0.003 Hydatidiform mole NA LHGDN Detail
0.122 Hyperemia NA CTD_human,GAD Detail
0.080 hyperglycemia NA RGD Detail
0.082 Hypertensive disease NA GAD,RGD Detail
<0.001 hypothyroidism NA BeFree Detail
0.003 Immunologic Deficiency Syndromes NA BeFree Detail
0.001 Immune System Diseases NA BeFree Detail
0.003 Inflammation NA LHGDN Detail
0.002 Sleep Initiation and Maintenance Disorders NA GAD Detail
<0.001 ischemia NA BeFree Detail
<0.001 Ketosis NA BeFree Detail
0.003 Kidney Failure, Chronic NA LHGDN Detail
0.080 leptospirosis NA RGD Detail
<0.001 leukemia NA BeFree Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 hairy cell leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
0.080 Lung diseases NA BeFree,RGD Detail
0.120 Lung Neoplasms NA CTD_human Detail
0.003 Lupus Erythematosus, Systemic NA BeFree,LHGDN Detail
<0.001 Lymphocytosis NA BeFree Detail
<0.001 reticulosarcoma NA BeFree Detail
0.005 lymphopenia NA BeFree,GAD Detail
0.005 malaria Further observations on associations between the ADA gene and past malaria morbi... BeFree,GAD 24965595 Detail
<0.001 measles Measles Virus Defective Interfering RNAs Are Generated Frequently and Early in t... BeFree 25972541 Detail
<0.001 melanoma NA BeFree Detail
0.002 Mental Retardation NA GAD Detail
<0.001 Mucocutaneous Lymph Node Syndrome These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 i... BeFree 25405820 Detail
0.080 Myocardial Reperfusion Injury NA RGD Detail
0.003 nephrotic syndrome NA LHGDN Detail
<0.001 obesity NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 pancytopenia NA BeFree Detail
<0.001 Peyronie Disease NA BeFree Detail
0.003 Peptic Ulcer NA LHGDN Detail
<0.001 polyarteritis nodosa These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 i... BeFree 25405820 Detail
0.080 peritonitis NA RGD Detail
<0.001 pneumonia NA BeFree Detail
0.003 pre-eclampsia NA LHGDN Detail
0.080 pulmonary edema NA RGD Detail
0.120 Spinal Cord Diseases NA CTD_human Detail
<0.001 strabismus NA BeFree Detail
<0.001 Takayasu Arteritis These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 i... BeFree 25405820 Detail
<0.001 Trichomonas Infections NA BeFree Detail
0.080 trypanosomiasis NA RGD Detail
<0.001 tuberculosis NA BeFree Detail
<0.001 Tuberculosis, Meningeal NA BeFree Detail
0.003 Peritonitis, Tuberculous NA BeFree,LHGDN Detail
0.001 pleural tuberculosis NA BeFree Detail
<0.001 vasculitis These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 i... BeFree 25405820 Detail
<0.001 Wheezing NA BeFree Detail
<0.001 xeroderma pigmentosum NA BeFree Detail
<0.001 diffuse large B-cell lymphoma NA BeFree Detail
<0.001 T-Cell Lymphoma NA BeFree Detail
0.003 Pleural Effusion, Malignant NA LHGDN Detail
0.152 severe combined immunodeficiency This review details gene therapy trials for X-linked and adenosine deaminase (AD... BeFree,CLINVAR,GAD 24848753 Detail
0.152 severe combined immunodeficiency These results suggest that this approach can be scaled-up to clinical levels for... BeFree,CLINVAR,GAD 24925206 Detail
0.152 severe combined immunodeficiency ADA is ubiquitously expressed in all tissues of the body but most profoundly aff... BeFree,CLINVAR,GAD 25875700 Detail
<0.001 essential hypertension NA BeFree Detail
<0.001 Macrocytosis NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 allergic asthma NA BeFree Detail
<0.001 HIV Encephalopathy NA BeFree Detail
<0.001 Dyslipidemias NA BeFree Detail
<0.001 Chronic heart failure The adenosine deaminase gene polymorphism is associated with chronic heart failu... BeFree 25170811 Detail
<0.001 Chromosome 20, trisomy NA BeFree Detail
<0.001 Vesicular Stomatitis We compared gene delivery by the HIV-1-based vector to murine γ-retroviral vecto... BeFree 24925206 Detail
<0.001 Disorder of purine metabolism NA BeFree Detail
<0.001 Combined molybdoflavoprotein enzyme deficiency At present, treatments for the clinically significant defects of the purine path... BeFree 24972650 Detail
0.007 adenosine deaminase deficiency At present, treatments for the clinically significant defects of the purine path... BeFree 24972650 Detail
0.002 idiopathic generalized epilepsy NA GAD Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 Secondary acquired sideroblastic anemia NA BeFree Detail
<0.001 reticular dysgenesis NA BeFree Detail
<0.001 Tuberculosis of intestines NA BeFree Detail
<0.001 HIV encephalitis NA BeFree Detail
0.324 SCID Due to ADA Deficiency, Early-Onset Identification of a point mutation in the adenosine deaminase gene responsible f... UNIPROT 3839802 Detail
<0.001 Acute Undifferentiated Leukemia NA BeFree Detail
<0.001 histiocytic sarcoma NA BeFree Detail
0.001 Maturity onset diabetes mellitus in young NA BeFree Detail
<0.001 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
0.247 Severe combined immunodeficiency due to adenosine deaminase deficiency At present, treatments for the clinically significant defects of the purine path... BeFree,CTD_human,ORPHANET 24972650 Detail
<0.001 Primary immune deficiency disorder NA BeFree Detail
0.002 Symmetrical dyschromatosis of extremities NA BeFree Detail
<0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 pricking of skin NA BeFree Detail
0.001 combined immunodeficiency NA BeFree Detail
<0.001 dementia NA BeFree Detail
0.003 Metabolic syndrome X NA BeFree,GAD Detail
0.002 Hepatitis C, Chronic NA GAD Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Chronic lung disease NA BeFree Detail
<0.001 malignant pleural mesothelioma Adenosine deaminase inhibitor EHNA exhibits a potent anticancer effect against m... BeFree 25547995 Detail
0.002 Sleep Disorders NA GAD Detail
<0.001 Post MI NA BeFree Detail
0.002 Hyperbilirubinemia, Neonatal NA GAD Detail
0.080 Drug-Induced Liver Injury NA RGD Detail
<0.001 congenital hypoplastic anemia NA BeFree Detail
<0.001 severe acute respiratory syndrome NA BeFree Detail
0.001 Anemia, Diamond-Blackfan NA BeFree Detail
0.002 X-Linked Combined Immunodeficiency Diseases NA BeFree Detail
<0.001 Undifferentiated leukemia NA BeFree Detail
0.002 colorectal cancer NA GAD Detail
<0.001 Histiocytic medullary reticulosis (disorder) NA BeFree Detail
<0.001 Recurrent infections (sinusitis and bacterial pneumonia and meningitis) NA BeFree Detail
0.080 Priapism, familial idiopathic NA MGD Detail
0.009 coronary artery disease NA BeFree,GAD,LHGDN Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
0.120 Omenn syndrome NA ORPHANET Detail
<0.001 Combined immunodeficiency disease NA BeFree Detail
<0.001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C NA BeFree Detail
<0.001 Middle East respiratory syndrome NA BeFree Detail
0.003 intellectual disability NA LHGDN Detail
<0.001 acquired immunodeficiency syndrome NA BeFree Detail
0.001 amyotrophic lateral sclerosis TAR DNA-binding protein (TDP-43) pathology and reduced expression of adenosine d... BeFree 24355598 Detail
0.002 Anemia, Hemolytic NA BeFree Detail
0.002 Anemia, Hemolytic, Congenital NA BeFree Detail
<0.001 Anemia, Sickle Cell NA BeFree Detail
0.003 Anoxia NA LHGDN Detail
0.003 rheumatoid arthritis NA BeFree,GAD Detail
0.011 asthma NA BeFree,GAD,LHGDN Detail
0.129 autistic disorder NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 bronchopulmonary dysplasia Pathway analyses confirmed involvement of known pathways of lung development and... BeFree 25449221 Detail
Annotation

Annotations

DescrptionSourceLinks
Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) and ADA*02;*02 (1/15... DisGeNET Detail
Overexpression of adenosine deaminase acting on RNA 1 in chordoma tissues is associated with chordom... DisGeNET Detail
NA DisGeNET Detail
There have been reports of increased activity of the adenosine deaminase enzyme in individuals with ... DisGeNET Detail
There have been reports of increased activity of the adenosine deaminase enzyme in individuals with ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) and ADA*02;*02 (1/15... DisGeNET Detail
A rapid rise in the number and combinations of diabetes therapies coupled with an unprecedented rise... DisGeNET Detail
Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) and ADA*02;*02 (1/15... DisGeNET Detail
A rapid rise in the number and combinations of diabetes therapies coupled with an unprecedented rise... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. DisGeNET Detail
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients wit... DisGeNET Detail
NA DisGeNET Detail
This review details gene therapy trials for X-linked and adenosine deaminase (ADA)-deficient severe ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We compared gene delivery by the HIV-1-based vector to murine γ-retroviral vectors pseudotyped with ... DisGeNET Detail
Adenosine deaminase acting on RNA-1 (ADAR1) inhibits HIV-1 replication in human alveolar macrophages... DisGeNET Detail
NA DisGeNET Detail
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Further observations on associations between the ADA gene and past malaria morbidity in Sardinia. DisGeNET Detail
Measles Virus Defective Interfering RNAs Are Generated Frequently and Early in the Absence of C Prot... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; ... DisGeNET Detail
NA DisGeNET Detail
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These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; ... DisGeNET Detail
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These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; ... DisGeNET Detail
NA DisGeNET Detail
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These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; ... DisGeNET Detail
NA DisGeNET Detail
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This review details gene therapy trials for X-linked and adenosine deaminase (ADA)-deficient severe ... DisGeNET Detail
These results suggest that this approach can be scaled-up to clinical levels for treatment of ADA-de... DisGeNET Detail
ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymphocyte deve... DisGeNET Detail
NA DisGeNET Detail
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The adenosine deaminase gene polymorphism is associated with chronic heart failure risk in Chinese. DisGeNET Detail
NA DisGeNET Detail
We compared gene delivery by the HIV-1-based vector to murine γ-retroviral vectors pseudotyped with ... DisGeNET Detail
NA DisGeNET Detail
At present, treatments for the clinically significant defects of the purine pathway are restricted: ... DisGeNET Detail
At present, treatments for the clinically significant defects of the purine pathway are restricted: ... DisGeNET Detail
NA DisGeNET Detail
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Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. DisGeNET Detail
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At present, treatments for the clinically significant defects of the purine pathway are restricted: ... DisGeNET Detail
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Adenosine deaminase inhibitor EHNA exhibits a potent anticancer effect against malignant pleural mes... DisGeNET Detail
NA DisGeNET Detail
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TAR DNA-binding protein (TDP-43) pathology and reduced expression of adenosine deaminase acting on R... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Pathway analyses confirmed involvement of known pathways of lung development and repair (CD44, phosp... 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
-
dbSNP
rs121908720 dbSNP
Genome
hg19
Position
chr20:43,247,246-43,280,893
Variant Type
snv
Genome browser