chrX:100652441:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chrX:100,652,441-100,662,913
hg38 chrX:101,397,453-101,407,925 

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 hypertrophic cardiomyopathy NA BeFree Detail
<0.001 corneal dystrophy NA BeFree Detail
0.002 Exanthema NA BeFree Detail
<0.001 glaucoma NA BeFree Detail
<0.001 Glycogen storage disease type II We tested several compounds in order to identify novel small molecules that prev... BeFree 25409744 Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 influenza NA BeFree Detail
0.001 Kidney Diseases NA BeFree Detail
0.001 Kidney Failure, Chronic NA BeFree Detail
<0.001 Lung diseases NA BeFree Detail
0.001 Metabolic Diseases NA BeFree Detail
0.001 Inborn errors of metabolism NA BeFree Detail
<0.001 Neuralgia The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalges... BeFree 25337704 Detail
<0.001 familial Mediterranean fever NA BeFree Detail
<0.001 pseudoxanthoma elasticum NA BeFree Detail
0.001 kidney failure Fabry disease results from deficient α-galactosidase A activity and globotriaosy... BeFree 25795794 Detail
0.005 Cerebrovascular accident NA BeFree,GAD Detail
0.010 Lysosomal Storage Diseases Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveal... BeFree 25187469 Detail
0.010 Lysosomal Storage Diseases Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from defi... BeFree 25468650 Detail
0.010 Lysosomal Storage Diseases Fabry disease is an X-linked lysosomal storage disease due to deficient α-galact... BeFree 25542581 Detail
0.010 Lysosomal Storage Diseases Fabry disease is an X-linked lysosomal storage disease caused by deficient activ... BeFree 25553976 Detail
0.010 Lysosomal Storage Diseases Fabry disease (FD) is a lysosomal storage disorder associated with loss of activ... BeFree 26046974 Detail
0.001 Left Ventricular Hypertrophy We developed a diagnostic algorithm for adults with LVH (maximal wall thickness ... BeFree 25442977 Detail
<0.001 neurological pain NA BeFree Detail
<0.001 Thrombosis of cerebral veins NA BeFree Detail
<0.001 X-linked agammaglobulinemia NA BeFree Detail
<0.001 Acroparesthesia NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
0.665 Fabry disease Newborn screening for Fabry disease in Taiwan reveals a high incidence of the la... UNIPROT 19621417 Detail
0.665 Fabry disease Two novel mutations (L32P) and (G85N) among five different missense mutations in... UNIPROT 7599642 Detail
0.665 Fabry disease Nature and frequency of mutations in the alpha-galactosidase A gene that cause F... UNIPROT 7504405 Detail
0.665 Fabry disease NA UNIPROT Detail
0.665 Fabry disease Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and ... UNIPROT 10916280 Detail
0.665 Fabry disease Fabry disease: identification of novel alpha-galactosidase A mutations and molec... UNIPROT 10208848 Detail
<0.001 Generalized glycogen storage disease of infants We tested several compounds in order to identify novel small molecules that prev... BeFree 25409744 Detail
<0.001 Hyperalgesia, Thermal The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalges... BeFree 25337704 Detail
0.002 Spots on skin NA BeFree Detail
<0.001 Endothelial dysfunction NA BeFree Detail
0.001 Cardiomyopathies NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 Congenital ectopia NA BeFree Detail
<0.001 Renal Insufficiency Fabry disease results from deficient α-galactosidase A activity and globotriaosy... BeFree 25795794 Detail
<0.001 Cornea verticillata NA BeFree Detail
0.001 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 Mechanical Allodynia The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalges... BeFree 25337704 Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
<0.001 Small fiber neuropathy Taken together, our findings imply that the α-GalA KO mouse is a good model in w... BeFree 25337704 Detail
<0.001 Small fiber neuropathy Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients wi... BeFree 25423912 Detail
<0.001 granulomatosis with polyangiitis He was diagnosed with Fabry's disease accompanying granulomatosis with polyangii... BeFree 25270872 Detail
0.120 angiokeratoma NA BeFree,CTD_human Detail
0.665 Fabry disease Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene res... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24645664 Detail
0.665 Fabry disease In adults with chronic kidney disease, an α-galactosidase A gene variant and an ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25187469 Detail
0.665 Fabry disease He was diagnosed with Fabry's disease accompanying granulomatosis with polyangii... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25270872 Detail
0.665 Fabry disease A family with various symptomatology suggestive of Anderson-Fabry disease and a ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25281798 Detail
0.665 Fabry disease A heterozygous female with Fabry disease due to a novel α-galactosidase A mutati... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25295576 Detail
0.665 Fabry disease Taken together, our findings imply that the α-GalA KO mouse is a good model in w... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25337704 Detail
0.665 Fabry disease Molecular damage in Fabry disease: characterization and prediction of alpha-gala... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25382311 Detail
0.665 Fabry disease We tested several compounds in order to identify novel small molecules that prev... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25409744 Detail
0.665 Fabry disease Fabry disease (FD) is a multisystemic disorder with typical neurological manifes... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25423912 Detail
0.665 Fabry disease In adults with unexplained LVH and a GLA GVUS, severe LVH at young age and low v... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25442977 Detail
0.665 Fabry disease Our evidence shows that fibroblasts secrete minimal amounts of GLA and consequen... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25468650 Detail
0.665 Fabry disease The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phe... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25468652 Detail
0.665 Fabry disease Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse mod... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25542581 Detail
0.665 Fabry disease α-Galactosidase A knockout mice: progressive organ pathology resembles the type ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25553976 Detail
0.665 Fabry disease GLA variants can lead to classical FD, an attenuated non-classical phenotype, or... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25596309 Detail
0.665 Fabry disease Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25655062 Detail
0.665 Fabry disease Consequently, information on ocular findings and α-galactosidase A gene mutation... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25781336 Detail
0.665 Fabry disease In addition to accumulation of α-galactosidase A substrates, other mechanisms ma... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26046974 Detail
0.665 Fabry disease Here, we demonstrate the ability of solid lipid nanoparticle-based non-viral vec... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26307832 Detail
<0.001 brucellosis NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We tested several compounds in order to identify novel small molecules that prevent premature degrad... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalgesia and mechanical al... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulati... DisGeNET Detail
NA DisGeNET Detail
Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant numb... DisGeNET Detail
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactos... DisGeNET Detail
Fabry disease is an X-linked lysosomal storage disease due to deficient α-galactosidase A (α-Gal A) ... DisGeNET Detail
Fabry disease is an X-linked lysosomal storage disease caused by deficient activity of α-galactosida... DisGeNET Detail
Fabry disease (FD) is a lysosomal storage disorder associated with loss of activity of the enzyme α-... DisGeNET Detail
We developed a diagnostic algorithm for adults with LVH (maximal wall thickness (MWT) of >12 mm), GL... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutati... DisGeNET Detail
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families... DisGeNET Detail
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. DisGeNET Detail
NA DisGeNET Detail
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype c... DisGeNET Detail
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detecti... DisGeNET Detail
We tested several compounds in order to identify novel small molecules that prevent premature degrad... DisGeNET Detail
The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalgesia and mechanical al... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulati... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalgesia and mechanical al... DisGeNET Detail
NA DisGeNET Detail
Taken together, our findings imply that the α-GalA KO mouse is a good model in which to study the pe... DisGeNET Detail
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosida... DisGeNET Detail
He was diagnosed with Fabry's disease accompanying granulomatosis with polyangiitis on the basis of ... DisGeNET Detail
NA DisGeNET Detail
Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency ... DisGeNET Detail
In adults with chronic kidney disease, an α-galactosidase A gene variant and an uncertain diagnosis ... DisGeNET Detail
He was diagnosed with Fabry's disease accompanying granulomatosis with polyangiitis on the basis of ... DisGeNET Detail
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism... DisGeNET Detail
A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique... DisGeNET Detail
Taken together, our findings imply that the α-GalA KO mouse is a good model in which to study the pe... DisGeNET Detail
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A patholog... DisGeNET Detail
We tested several compounds in order to identify novel small molecules that prevent premature degrad... DisGeNET Detail
Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stro... DisGeNET Detail
In adults with unexplained LVH and a GLA GVUS, severe LVH at young age and low voltages on ECG exclu... DisGeNET Detail
Our evidence shows that fibroblasts secrete minimal amounts of GLA and consequently normal fibroblas... DisGeNET Detail
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from in... DisGeNET Detail
Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrome... DisGeNET Detail
α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenot... DisGeNET Detail
GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. DisGeNET Detail
Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the α-... DisGeNET Detail
Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the... DisGeNET Detail
In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD ... DisGeNET Detail
Here, we demonstrate the ability of solid lipid nanoparticle-based non-viral vectors to increase the... 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
rs28935191 dbSNP
Genome
hg19
Position
chrX:100,652,441-100,662,913
Variant Type
snv
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