chr1:155234452:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:155,204,243-155,214,490 
hg38 chr1:155,234,452-155,244,699

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
0.441 Gaucher Disease, Type 2 (disorder) A novel complex allele and two new point mutations in type 2 (acute neuronopathi... UNIPROT 9851895 Detail
<0.001 Constipation NA BeFree Detail
<0.001 Presenile dementia NA BeFree Detail
0.003 Epilepsies, Myoclonic NA LHGDN Detail
0.355 Gaucher disease Gaucher disease (GD) is the most common glycolipid storage disorder resulting fr... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24522292 Detail
0.355 Gaucher disease Recent discovery of clinical, genetic, and pathological linkage between GD and P... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24668939 Detail
0.355 Gaucher disease Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in t... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24801745 Detail
0.355 Gaucher disease From the first descriptions of Parkinson's disease (PD) and Gaucher's disease (G... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24894157 Detail
0.355 Gaucher disease Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24894562 Detail
0.355 Gaucher disease Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lyso... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24905578 Detail
0.355 Gaucher disease Saposin (Sap) C is an essential cofactor for the lysosomal degradation of glucos... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24925315 Detail
0.355 Gaucher disease A Phase 3, multicenter, open-label, switchover trial to assess the safety and ef... BeFree,CLINVAR,CTD_human,GAD,LHGDN 24950666 Detail
0.355 Gaucher disease Mutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), a... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25111979 Detail
0.355 Gaucher disease Gaucher's disease is a hereditary deficiency of the enzyme β-glucocerebrosidase ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25126987 Detail
0.355 Gaucher disease Although infusions of recombinant GBA ameliorate the systemic effects of GD, thi... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25416676 Detail
0.355 Gaucher disease Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease,... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25552189 Detail
0.355 Gaucher disease Homozygous mutations in GBA1 cause Gaucher disease, the most common lysosomal st... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25813221 Detail
0.355 Gaucher disease In the last decade, several lines of evidence have been presented that document ... BeFree,CLINVAR,CTD_human,GAD,LHGDN 25987177 Detail
0.355 Gaucher disease These data provide new insights into the mechanisms involved in the intracellula... BeFree,CLINVAR,CTD_human,GAD,LHGDN 26018676 Detail
0.355 Gaucher disease The diversity of GBA gene mutations from patients with Gaucher disease represent... BeFree,CLINVAR,CTD_human,GAD,LHGDN 26096741 Detail
<0.001 Hepatosplenomegaly Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopeni... BeFree 25655314 Detail
0.002 Hypergammaglobulinemia NA GAD Detail
0.120 pulmonary hypertension NA BeFree,CTD_human Detail
<0.001 Congenital ichthyosis NA BeFree Detail
0.001 lymphoma Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma and can be sep... BeFree 24887457 Detail
0.001 lymphoma Here, we identified candidate genes which were upregulated after an epigenetic t... BeFree 25226156 Detail
<0.001 Lymphoma, Follicular NA BeFree Detail
<0.001 Metabolic Diseases Gaucher disease (GD) is an inherited metabolic disorder caused by mutations in t... BeFree 25416676 Detail
0.003 multiple myeloma NA BeFree,GAD Detail
<0.001 Muscle Rigidity NA BeFree Detail
0.003 nervous system disorder NA BeFree,GAD Detail
0.003 Niemann-Pick Diseases NA LHGDN Detail
<0.001 kidney failure These data provide new insights into the mechanisms involved in the intracellula... BeFree 26018676 Detail
<0.001 Trisomy NA BeFree Detail
<0.001 Congenital Nonbullous Ichthyosiform Erythroderma NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
0.005 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma and can be sep... BeFree 24887457 Detail
0.007 Lysosomal Storage Diseases Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead ... BeFree 24894562 Detail
0.007 Lysosomal Storage Diseases Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lyso... BeFree 24905578 Detail
<0.001 Muscular stiffness NA BeFree Detail
<0.001 Bradykinesia NA BeFree Detail
0.005 Parkinsonian Disorders In this review, we (i) outline how GBA was identified as a genetic risk factor f... BeFree,LHGDN 24894157 Detail
<0.001 Ichthyosis linearis circumflexa NA BeFree Detail
0.002 Impaired cognition The GBA-associated PD patients compared with non-mutation PD patients, although ... BeFree 25448271 Detail
0.003 multiple system atrophy NA BeFree,GAD Detail
<0.001 Motor symptoms This study was undertaken to evaluate progression of motor and non-motor symptom... BeFree 25448271 Detail
<0.001 dementia NA BeFree Detail
<0.001 Neurodegenerative Disorders From a translational perspective, we discuss how various therapeutic approaches ... BeFree 25573151 Detail
<0.001 Leukemogenesis NA BeFree Detail
<0.001 Action myoclonus-renal failure syndrome NA BeFree Detail
0.133 Lewy Body Disease We have previously shown that the p.N370S variant in GBA is associated with DLB,... BeFree,CTD_human,GAD,LHGDN 24973356 Detail
0.133 Lewy Body Disease Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease,... BeFree,CTD_human,GAD,LHGDN 25552189 Detail
0.133 Lewy Body Disease Despite the wealth of experimental, clinical and genetic evidence that supports ... BeFree,CTD_human,GAD,LHGDN 25573151 Detail
0.133 Lewy Body Disease The high level of lysosomal enzymes activity observed in substantia nigra, toget... BeFree,CTD_human,GAD,LHGDN 25881142 Detail
<0.001 Activated B-Cell-Like Diffuse Large B-Cell Lymphoma NA BeFree Detail
0.445 Gaucher Disease, Type 1 Gaucher disease (GD) is the most common glycolipid storage disorder resulting fr... BeFree,CLINVAR,MGD,ORPHANET,UNIPROT 24522292 Detail
0.445 Gaucher Disease, Type 1 Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for several ... BeFree,CLINVAR,MGD,ORPHANET,UNIPROT 25326392 Detail
0.120 Gaucher-like disease NA ORPHANET Detail
0.445 Gaucher Disease, Type 1 Analysis and classification of 304 mutant alleles in patients with type 1 and ty... UNIPROT 10796875 Detail
<0.001 Alzheimer's disease A lipidomic analysis was also performed in brain autopsies (n = 67) which includ... BeFree 25933391 Detail
<0.001 anemia NA BeFree Detail
<0.001 Bone Diseases Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopeni... BeFree 25655314 Detail
0.002 Metabolic Bone Disorder NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidas... DisGeNET Detail
Recent discovery of clinical, genetic, and pathological linkage between GD and PD offers a unique op... DisGeNET Detail
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocereb... DisGeNET Detail
From the first descriptions of Parkinson's disease (PD) and Gaucher's disease (GD) in the nineteenth... DisGeNET Detail
Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular ... DisGeNET Detail
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disord... DisGeNET Detail
Saposin (Sap) C is an essential cofactor for the lysosomal degradation of glucosylceramide (GC) by g... DisGeNET Detail
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucer... DisGeNET Detail
Mutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susc... DisGeNET Detail
Gaucher's disease is a hereditary deficiency of the enzyme β-glucocerebrosidase (GCase) that is most... DisGeNET Detail
Although infusions of recombinant GBA ameliorate the systemic effects of GD, this therapy has no eff... DisGeNET Detail
Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease, Parkinsonism and Le... DisGeNET Detail
Homozygous mutations in GBA1 cause Gaucher disease, the most common lysosomal storage disease, while... DisGeNET Detail
In the last decade, several lines of evidence have been presented that document the clinical manifes... DisGeNET Detail
These data provide new insights into the mechanisms involved in the intracellular trafficking of GCa... DisGeNET Detail
The diversity of GBA gene mutations from patients with Gaucher disease represented in the ICGG Gauch... DisGeNET Detail
Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopenias, and bone disease... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma and can be separated into two subt... DisGeNET Detail
Here, we identified candidate genes which were upregulated after an epigenetic treatment of B-cell l... DisGeNET Detail
NA DisGeNET Detail
Gaucher disease (GD) is an inherited metabolic disorder caused by mutations in the glucocerebrosidas... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These data provide new insights into the mechanisms involved in the intracellular trafficking of GCa... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Diffuse large B-cell lymphoma (DLBCL) is the most common lymphoma and can be separated into two subt... DisGeNET Detail
Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular ... DisGeNET Detail
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disord... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii... DisGeNET Detail
NA DisGeNET Detail
The GBA-associated PD patients compared with non-mutation PD patients, although younger and with an ... DisGeNET Detail
NA DisGeNET Detail
This study was undertaken to evaluate progression of motor and non-motor symptoms in sporadic PD pat... DisGeNET Detail
NA DisGeNET Detail
From a translational perspective, we discuss how various therapeutic approaches to lysosomal dysfunc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together wit... DisGeNET Detail
Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease, Parkinsonism and Le... DisGeNET Detail
Despite the wealth of experimental, clinical and genetic evidence that supports the association betw... DisGeNET Detail
The high level of lysosomal enzymes activity observed in substantia nigra, together with the selecti... DisGeNET Detail
NA DisGeNET Detail
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidas... DisGeNET Detail
Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for several organ defects, inclu... DisGeNET Detail
NA DisGeNET Detail
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease... DisGeNET Detail
A lipidomic analysis was also performed in brain autopsies (n = 67) which included LBD (n = 34), ADL... DisGeNET Detail
NA DisGeNET Detail
Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopenias, and bone disease... 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
rs1141808 dbSNP
Genome
hg38
Position
chr1:155,234,452-155,244,699
Variant Type
snv
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