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
Descrption | Source | Links |
---|---|---|
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 |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | 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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | 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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | 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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
At present, treatments for the clinically significant defects of the purine pathway are restricted: ... | 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 |
Adenosine deaminase inhibitor EHNA exhibits a potent anticancer effect against malignant pleural mes... | 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 |
NA | DisGeNET | Detail |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
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