chr17:78075332:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:78,075,332-78,093,680
hg38 chr17:80,101,533-80,119,881 

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
0.121 hypertrophic cardiomyopathy Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associ... BeFree,CTD_human 24327207 Detail
0.121 hypertrophic cardiomyopathy The mutation p.G611D was found in homozygosis in a one-year-old child, who prese... BeFree,CTD_human 25681614 Detail
<0.001 Deglutition Disorders NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent When haplotypes were constructed, GAA haplotype displayed significant associatio... BeFree 25448703 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Bacterial Endocarditis NA BeFree Detail
<0.001 fragile X syndrome NA BeFree Detail
0.023 Friedreich ataxia Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associ... BeFree 24327207 Detail
0.023 Friedreich ataxia Here, we discuss the feasibility of autologous transplantation in FRDA, highligh... BeFree 24962209 Detail
0.023 Friedreich ataxia To determine the potential role of the other component of the MutLα complex, MLH... BeFree 24971578 Detail
0.023 Friedreich ataxia Molecular testing for Friedreich ataxia showed significantly expanded GAA repeat... BeFree 25149925 Detail
0.023 Friedreich ataxia A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia. BeFree 25681319 Detail
0.023 Friedreich ataxia We propose a model of premature termination of FXN transcription induced by path... BeFree 25831023 Detail
<0.001 Primary myelofibrosis A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... BeFree 22052707 Detail
0.120 membranous glomerulonephritis NA CTD_human Detail
0.004 glycogen storage disease Pompe disease or glycogen storage disease type II is a glycogen storage disorder... BeFree,GAD 24976573 Detail
0.004 glycogen storage disease Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that... BeFree,GAD 25526786 Detail
0.499 Glycogen storage disease type II A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in in... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 24976573 Detail
0.499 Glycogen storage disease type II Pompe disease is an inherited lysosomal storage disorder that results from a def... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25036864 Detail
0.499 Glycogen storage disease type II Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal re... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25037089 Detail
0.499 Glycogen storage disease type II Pompe disease (glycogen storage disease type II) is caused by autosomal recessiv... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25047669 Detail
0.499 Glycogen storage disease type II Application of this approach to one novel and six previously published variants ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25243733 Detail
0.499 Glycogen storage disease type II Clinical and GAA gene mutation analysis in mainland Chinese patients with late-o... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25526786 Detail
0.499 Glycogen storage disease type II Novel GAA mutations in patients with Pompe disease. BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT 25681614 Detail
<0.001 Hamartoma Syndrome, Multiple NA BeFree Detail
0.003 Heart Diseases NA BeFree,GAD Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
<0.001 male infertility NA BeFree Detail
<0.001 Lung diseases NA BeFree Detail
<0.001 macular degeneration NA BeFree Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 melanoma NA BeFree Detail
<0.001 Muscle Spasticity NA BeFree Detail
<0.001 myopathy NA BeFree Detail
<0.001 Mycoses NA BeFree Detail
<0.001 Myoclonus NA BeFree Detail
<0.001 Myotonic dystrophy NA BeFree Detail
<0.001 Pustulosis of Palms and Soles NA BeFree Detail
<0.001 Paresis NA BeFree Detail
<0.001 polyps NA BeFree Detail
<0.001 Pruritus The haplotype GAA was associated with a severe form of pruritus (P = 0.016) and ... BeFree 25534405 Detail
<0.001 psoriasis NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Paraparesis, Spastic NA BeFree Detail
<0.001 Spastic paraplegia NA BeFree Detail
<0.001 Spastic Paraplegia, Hereditary The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-pr... BeFree 25765228 Detail
<0.001 thalassemia NA BeFree Detail
0.001 Lysosomal Storage Diseases Pompe disease is an inherited lysosomal storage disorder that results from a def... BeFree 25036864 Detail
0.001 Ataxia, Spinocerebellar NA BeFree Detail
0.121 Left Ventricular Hypertrophy NA BeFree,CTD_human Detail
<0.001 Sensory neuropathy NA BeFree Detail
<0.001 Muscle Weakness NA BeFree Detail
0.004 Aortic Aneurysm, Thoracic NA BeFree Detail
<0.001 Ataxic NA BeFree Detail
<0.001 Wasting NA BeFree Detail
0.001 age related macular degeneration NA BeFree Detail
0.120 Ventricular Dysfunction NA CTD_human Detail
<0.001 axonal neuropathy NA BeFree Detail
<0.001 Metabolic myopathy Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal re... BeFree 25037089 Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
0.499 Glycogen storage disease type II Two mutations affecting the transport and maturation of lysosomal alpha-glucosid... UNIPROT 8401535 Detail
<0.001 anaplastic oligodendroglioma NA BeFree Detail
0.016 Generalized glycogen storage disease of infants A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in in... BeFree 24976573 Detail
0.016 Generalized glycogen storage disease of infants Pompe disease is an inherited lysosomal storage disorder that results from a def... BeFree 25036864 Detail
0.016 Generalized glycogen storage disease of infants Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal re... BeFree 25037089 Detail
0.016 Generalized glycogen storage disease of infants Pompe disease (glycogen storage disease type II) is caused by autosomal recessiv... BeFree 25047669 Detail
0.016 Generalized glycogen storage disease of infants Application of this approach to one novel and six previously published variants ... BeFree 25243733 Detail
0.016 Generalized glycogen storage disease of infants Clinical and GAA gene mutation analysis in mainland Chinese patients with late-o... BeFree 25526786 Detail
0.016 Generalized glycogen storage disease of infants Novel GAA mutations in patients with Pompe disease. BeFree 25681614 Detail
<0.001 Cerebellar Ataxia, Early Onset NA BeFree Detail
<0.001 Congenital Myotonic Dystrophy NA BeFree Detail
0.004 Neurodegenerative Disorders Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associ... BeFree 24327207 Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 cardiac symptom NA BeFree Detail
0.001 Cardiomyopathies NA BeFree Detail
<0.001 respiratory failure NA BeFree Detail
<0.001 Degenerative disorder NA BeFree Detail
<0.001 Familial psoriasis NA BeFree Detail
<0.001 infective endocarditis NA BeFree Detail
<0.001 spastic ataxia NA BeFree Detail
<0.001 persistent Mullerian duct syndrome NA BeFree Detail
0.001 Friedreich ataxia 1 NA BeFree Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
<0.001 Hereditary Neurodegenerative Disorder NA BeFree Detail
<0.001 Primary myelofibrosis 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 aortic aneurysm NA BeFree Detail
<0.001 aphasia NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.016 Ataxia 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 azoospermia NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertroph... DisGeNET Detail
The mutation p.G611D was found in homozygosis in a one-year-old child, who presented low levels of G... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
When haplotypes were constructed, GAA haplotype displayed significant association with T1D (Z score=... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertroph... DisGeNET Detail
Here, we discuss the feasibility of autologous transplantation in FRDA, highlighting the need for th... DisGeNET Detail
To determine the potential role of the other component of the MutLα complex, MLH1, in GAA repeat ins... DisGeNET Detail
Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >... DisGeNET Detail
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia. DisGeNET Detail
We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA ... DisGeNET Detail
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... DisGeNET Detail
NA DisGeNET Detail
Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with mal... DisGeNET Detail
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported i... DisGeNET Detail
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycog... DisGeNET Detail
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-gl... DisGeNET Detail
Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in... DisGeNET Detail
Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA g... DisGeNET Detail
Application of this approach to one novel and six previously published variants in the acid-alpha gl... DisGeNET Detail
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: ... DisGeNET Detail
Novel GAA mutations in patients with Pompe disease. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
The haplotype GAA was associated with a severe form of pruritus (P = 0.016) and the haplotype GGG wi... 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
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-gl... 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
Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in... DisGeNET Detail
NA DisGeNET Detail
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case... DisGeNET Detail
NA DisGeNET Detail
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycog... DisGeNET Detail
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-gl... DisGeNET Detail
Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in... DisGeNET Detail
Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA g... DisGeNET Detail
Application of this approach to one novel and six previously published variants in the acid-alpha gl... DisGeNET Detail
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: ... DisGeNET Detail
Novel GAA mutations in patients with Pompe disease. DisGeNET Detail
NA DisGeNET Detail
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
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NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
FXN GAA repeat expansions in amyotrophic lateral sclerosis. 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

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
rs28934572 dbSNP
Genome
hg19
Position
chr17:78,075,332-78,093,680
Variant Type
snv
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