chr9:69035752:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:71,650,668-71,693,992 |
| hg38 | chr9:69,035,752-69,079,076 |
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 | Cardiomyopathy, Dilated | NA | BeFree | Detail | |
| 0.001 | hypertrophic cardiomyopathy | Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associ... | BeFree | 24327207 | Detail |
| 0.003 | cerebellar ataxia | NA | BeFree,GAD | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| 0.004 | diabetes mellitus | NA | BeFree,LHGDN | Detail | |
| 0.008 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
| <0.001 | Dysarthria | NA | BeFree | Detail | |
| <0.001 | dystonia | NA | BeFree | Detail | |
| <0.001 | fragile X syndrome | NA | BeFree | Detail | |
| <0.001 | Heart Diseases | NA | BeFree | Detail | |
| 0.002 | Cardiomegaly | NA | GAD | Detail | |
| <0.001 | Herpes Simplex Infections | Our previous studies demonstrated the advantages of using high-capacity herpes s... | BeFree | 26027909 | Detail |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Machado-Joseph disease | NA | BeFree | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.002 | myocardial infarction | NA | GAD | Detail | |
| <0.001 | Myotonic dystrophy | NA | BeFree | Detail | |
| <0.001 | nervous system disorder | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Neuromuscular Diseases | NA | BeFree | Detail | |
| <0.001 | Pallor | NA | BeFree | Detail | |
| <0.001 | Parkinson disease | NA | BeFree | Detail | |
| <0.001 | Peripheral neuropathy | NA | BeFree | Detail | |
| <0.001 | Protein Deficiency | NA | BeFree | Detail | |
| <0.001 | restless legs syndrome | NA | BeFree | Detail | |
| 0.002 | schizophrenia | NA | GAD | Detail | |
| 0.003 | Scoliosis, unspecified | NA | BeFree,GAD | Detail | |
| <0.001 | Spastic Paraplegia, Hereditary | The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-pr... | BeFree | 25765228 | Detail |
| 0.002 | Ataxia, Spinocerebellar | NA | BeFree | Detail | |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| <0.001 | Sensory neuropathy | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| <0.001 | Paroxysmal atrial fibrillation | NA | BeFree | Detail | |
| <0.001 | Hypoalbuminemia | NA | BeFree | Detail | |
| <0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
| 0.002 | Iron Overload | Silencing of FXN expressions occurred both in somatic FRDA-skin fibroblasts and ... | BeFree | 24327207 | Detail |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| <0.001 | Depletion of mitochondrial DNA | NA | BeFree | Detail | |
| <0.001 | Ventricular septal hypertrophy | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of prostate | NA | GAD | Detail | |
| <0.001 | Hereditary hemochromatosis | NA | BeFree | Detail | |
| <0.001 | Dystonia Disorders | NA | BeFree | Detail | |
| <0.001 | Congenital Myotonic Dystrophy | NA | BeFree | Detail | |
| <0.001 | Spastic | NA | BeFree | Detail | |
| 0.014 | Neurodegenerative Disorders | Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associ... | BeFree,LHGDN | 24327207 | Detail |
| 0.014 | Neurodegenerative Disorders | Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the... | BeFree,LHGDN | 24691413 | Detail |
| 0.014 | Neurodegenerative Disorders | Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only... | BeFree,LHGDN | 26149656 | Detail |
| <0.001 | Congenital scoliosis | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Acquired scoliosis | NA | BeFree | Detail | |
| <0.001 | cardiac symptom | NA | BeFree | Detail | |
| <0.001 | Ataxia, Appendicular | NA | BeFree | Detail | |
| 0.001 | Mitochondrial Diseases | NA | BeFree | Detail | |
| <0.001 | Heredodegenerative Disorders, Nervous System | NA | BeFree | Detail | |
| <0.001 | spinocerebellar ataxia type 1 | NA | BeFree | Detail | |
| 0.005 | Cardiomyopathies | NA | BeFree,GAD | Detail | |
| <0.001 | Ceruloplasmin deficiency | NA | BeFree | Detail | |
| 0.003 | Cardiomyopathy, Hypertrophic, Familial | NA | BeFree,LHGDN | Detail | |
| 0.002 | Degenerative disorder | NA | BeFree | Detail | |
| <0.001 | Head titubation | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Bulbo-Spinal Atrophy, X-Linked | NA | BeFree | Detail | |
| <0.001 | FRAGILE X TREMOR/ATAXIA SYNDROME | NA | BeFree | Detail | |
| 0.120 | FRIEDREICH ATAXIA WITH RETAINED REFLEXES | NA | CLINVAR | Detail | |
| 0.001 | Ataxia with vitamin E deficiency | This study showed that in Algerian patients, the two most common types of ataxia... | BeFree | 26068213 | Detail |
| <0.001 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | NA | BeFree | Detail | |
| 0.441 | Friedreich ataxia 1 | NA | BeFree,CLINVAR,CTD_human,MGD,UNIPROT | Detail | |
| <0.001 | Hereditary Neurodegenerative Disorder | NA | BeFree | Detail | |
| <0.001 | Spastic Paraplegia Type 7 | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | NA | BeFree | Detail | |
| <0.001 | amyotrophic lateral sclerosis | FXN GAA repeat expansions in amyotrophic lateral sclerosis. | BeFree | 24613765 | Detail |
| <0.001 | Apraxias | NA | BeFree | Detail | |
| 0.024 | Ataxia | The recessive ataxias are not named systematically: The most frequent are Friedr... | BeFree | 25192506 | Detail |
| 0.024 | Ataxia | It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA geneti... | BeFree | 25765228 | Detail |
| <0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| <0.001 | Ataxias, Hereditary | The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-pr... | BeFree | 25765228 | Detail |
| <0.001 | Bloom syndrome | NA | BeFree | Detail | |
| <0.001 | Brain Neoplasms | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertroph... | 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 |
| Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 ... | 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 |
| The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in... | 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 |
| Silencing of FXN expressions occurred both in somatic FRDA-skin fibroblasts and two of the induced p... | 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 |
| Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertroph... | DisGeNET | Detail |
| Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the cause of Friedreich... | DisGeNET | Detail |
| Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only human disease known... | 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 |
| This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| FXN GAA repeat expansions in amyotrophic lateral sclerosis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The recessive ataxias are not named systematically: The most frequent are Friedreich, ataxia telangi... | DisGeNET | Detail |
| It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should no... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in... | 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
- hg38
- Position
- chr9:69,035,752-69,079,076
- Variant Type
- snv
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