chrX:154517825:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chrX:153,746,149-153,775,787 
hg38 chrX:154,517,825-154,547,572

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 NA BeFree Detail
<0.001 cerebral infarction NA BeFree Detail
0.080 Transient ischemic attack NA RGD Detail
<0.001 cholelithiasis NA BeFree Detail
0.080 cholestasis NA BeFree,RGD Detail
<0.001 hemophilia B NA BeFree Detail
<0.001 Colonic Neoplasms NA BeFree Detail
0.002 Coronary heart disease NA GAD Detail
0.080 congenital hypothyroidism NA RGD Detail
0.080 Multi-infarct dementia NA RGD Detail
0.120 contact dermatitis NA CTD_human Detail
0.001 Diabetes NA BeFree Detail
0.001 diabetes mellitus NA BeFree Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
0.003 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.080 Diabetic Nephropathy NA BeFree,RGD Detail
<0.001 Muscular Dystrophy, Duchenne NA BeFree Detail
0.003 Elliptocytosis, Hereditary NA BeFree,GAD Detail
0.002 encephalitis NA GAD Detail
<0.001 Enterovirus Infections NA BeFree Detail
<0.001 Esophageal Neoplasms NA BeFree Detail
<0.001 Exanthema NA BeFree Detail
0.131 favism Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most comm... BeFree,CTD_human,GAD 25339475 Detail
<0.001 fragile X syndrome NA BeFree Detail
<0.001 Gardner syndrome NA BeFree Detail
0.001 Gilbert Disease (disorder) NA BeFree Detail
0.007 Glycogen Storage Disease Type I NA GAD Detail
0.120 chronic granulomatous disease NA BeFree,CTD_human Detail
<0.001 cardiac arrest NA BeFree Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
0.004 Hemoglobinopathies Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were ... BeFree,GAD 25915902 Detail
0.003 hemoglobinuria NA BeFree,GAD Detail
0.129 Hemolysis (disorder) NA CTD_human,GAD Detail
<0.001 Hemophilia A NA BeFree Detail
0.080 hepatic encephalopathy NA RGD Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 Hepatolenticular Degeneration NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 Hyperaldosteronism NA BeFree Detail
0.025 Hyperbilirubinemia NA BeFree,GAD,LHGDN Detail
0.002 Hyperbilirubinemia, Hereditary NA GAD Detail
0.080 Hypercholesterolemia NA RGD Detail
<0.001 pulmonary hypertension Hypoxia-induced glucose-6-phosphate dehydrogenase overexpression and -activation... BeFree 25480333 Detail
0.080 Hypertension, Renovascular NA RGD Detail
0.080 Hypertriglyceridemia NA RGD Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
<0.001 Bloch Sulzberger syndrome NA BeFree Detail
0.080 Insulin resistance NA RGD Detail
0.011 neonatal jaundice NA BeFree,GAD Detail
0.002 kernicterus Misdiagnosis of G-6-PD deficiency in neonates, at risk of severe hemolytic episo... BeFree 25632835 Detail
0.080 Kidney Diseases NA RGD Detail
<0.001 Leishmaniasis, Cutaneous NA BeFree Detail
<0.001 Infection by Leishmania braziliensis NA BeFree Detail
0.002 leukemia NA BeFree Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Acute Erythroblastic Leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Acute Megakaryocytic Leukemias NA BeFree Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
0.004 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Myeloid, Chronic-Phase NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
0.028 malaria Glucose-6-phosphate dehydrogenase polymorphisms and susceptibility to mild malar... BeFree,GAD 25015414 Detail
0.028 malaria Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that i... BeFree,GAD 25141282 Detail
0.028 malaria In response to high frequency of malaria infection, several host genetic factors... BeFree,GAD 25172454 Detail
0.028 malaria G6PD deficient subgroup had a marginally increased risk of malaria infection com... BeFree,GAD 25470251 Detail
0.028 malaria Blood samples for G6PD fluorescent spot test (FST), G6PD genotyping, and malaria... BeFree,GAD 25536053 Detail
0.028 malaria The use of primaquine and other 8-aminoquinolines for malaria elimination is ham... BeFree,GAD 25646252 Detail
0.028 malaria African glucose-6-phosphate dehydrogenase alleles associated with protection fro... BeFree,GAD 25671784 Detail
0.028 malaria G6PD gene variants and its association with malaria in a Sri Lankan population. BeFree,GAD 25885177 Detail
0.028 malaria Polymorphisms of G6PD did not significantly influence the prevalence malaria (P ... BeFree,GAD 26448013 Detail
0.023 Malaria, Falciparum Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were deter... BeFree,GAD 24913169 Detail
0.003 Malaria, Vivax NA BeFree,GAD Detail
<0.001 melanoma NA BeFree Detail
0.001 Mental Retardation NA BeFree Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 Inborn errors of metabolism NA BeFree Detail
<0.001 methemoglobinemia NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
<0.001 myopathy NA BeFree Detail
<0.001 muscular dystrophy NA BeFree Detail
<0.001 Myeloproliferative disease NA BeFree Detail
0.080 myocardial infarction NA RGD Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
0.080 obesity NA BeFree,RGD Detail
<0.001 oculocerebrorenal syndrome NA BeFree Detail
<0.001 pancytopenia NA BeFree Detail
0.120 phagocyte bactericidal dysfunction NA CTD_human Detail
0.080 Phenylketonurias NA RGD Detail
<0.001 polycythemia NA BeFree Detail
<0.001 polycythemia vera NA BeFree Detail
<0.001 polyps NA BeFree Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 priapism NA BeFree Detail
0.080 Reperfusion Injury NA RGD Detail
<0.001 Age-related cataract NA BeFree Detail
<0.001 Septicemia NA BeFree Detail
0.007 Sickle Cell Trait NA BeFree,GAD Detail
0.001 hereditary spherocytosis NA BeFree Detail
0.003 Cerebrovascular accident NA BeFree,GAD Detail
0.002 thalassemia NA BeFree Detail
<0.001 Thrombocythemia, Essential NA BeFree Detail
<0.001 Upper Respiratory Infections NA BeFree Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 Vitamin A Deficiency NA BeFree Detail
<0.001 Vitamin B 12 Deficiency NA BeFree Detail
<0.001 Wiskott-Aldrich syndrome NA BeFree Detail
0.082 cataract NA BeFree,RGD Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase In the present investigation, DNA samples from 17 patients with G6PD deficiency ... BeFree 9891846 Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 Color Blindness, Red-Green NA BeFree Detail
<0.001 nephrogenic diabetes insipidus NA BeFree Detail
<0.001 Neurofibromatoses NA BeFree Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 neurofibrosarcoma NA BeFree Detail
<0.001 Red blood cell disorder NA BeFree Detail
<0.001 Sickle cell-beta-thalassemia NA BeFree Detail
<0.001 Premature aging syndrome NA BeFree Detail
<0.001 Anemia, severe G6PD A- heterozygotes and hemizygotes/homozygotes experienced dose-dependent low... BeFree 24913169 Detail
<0.001 Anemia, severe By logistic regression, three clinical variables predicted G6PD status: maternal... BeFree 26240158 Detail
0.001 color blindness NA BeFree Detail
<0.001 Sepsis NA BeFree Detail
<0.001 Multiple tumors NA BeFree Detail
<0.001 parathyroid adenoma NA BeFree Detail
<0.001 Unconjugated hyperbilirubinemia NA BeFree Detail
0.080 Porphobilinogen synthase deficiency NA RGD Detail
<0.001 Impaired glucose tolerance NA BeFree Detail
<0.001 Drug-induced hemolytic anemia NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Philadelphia chromosome positive chronic myelogenous leukemia NA BeFree Detail
<0.001 Philadelphia chromosome negative chronic myelogenous leukemia NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus Glucose-6-phosphate dehydrogenase expression is correlated with poor clinical pr... BeFree 26329784 Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
<0.001 Congenital color blindness NA BeFree Detail
<0.001 Deficiency of pyruvate kinase In response to high frequency of malaria infection, several host genetic factors... BeFree 25172454 Detail
<0.001 Uridine monophosphate hydrolase deficiency NA BeFree Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
0.080 Non-alcoholic Fatty Liver Disease NA RGD Detail
<0.001 Fragile X chromosome NA BeFree Detail
0.005 Chronic non-spherocytic hemolytic anemia NA BeFree,GAD Detail
<0.001 Respiratory distress NA BeFree Detail
0.006 Enzymopathy NA BeFree Detail
<0.001 Bilateral cataracts (disorder) NA BeFree Detail
0.080 Metabolic syndrome X NA RGD Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
0.001 Cardiovascular Diseases Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&... BeFree 11916749 Detail
0.145 Anemia, Hemolytic Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&... BeFree 11916749 Detail
0.131 favism Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&... BeFree 11916749 Detail
<0.001 Chronic anemia NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node Furthermore, high G6PD expression was tightly associated with histological grade... BeFree 26329784 Detail
<0.001 Thalassemia trait NA BeFree Detail
<0.001 malignant peripheral nerve sheath tumor NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 hereditary anemia NA BeFree Detail
0.010 Hyperbilirubinemia, Neonatal NA BeFree,GAD Detail
<0.001 Plasmodium vivax infection NA BeFree Detail
0.080 Drug-Induced Liver Injury NA RGD Detail
<0.001 Beta thalassemia trait NA BeFree Detail
<0.001 Cardiomyopathies NA BeFree Detail
<0.001 Cholestasis in newborn NA BeFree Detail
<0.001 Mental Retardation, X-Linked NA BeFree Detail
<0.001 Degenerative disorder Moreover, how G6PD status alters the susceptibility of the affected individuals ... BeFree 24720642 Detail
<0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative NA BeFree Detail
0.005 Chronic hemolytic anemia NA BeFree Detail
0.001 alpha^+^ Thalassemia NA BeFree Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Erythrocytosis NA BeFree Detail
<0.001 Slow acetylator due to N-acetyltransferase enzyme variant NA BeFree Detail
<0.001 6-Phosphogluconolactonase Deficiency NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
0.081 liver carcinoma NA BeFree,RGD Detail
0.120 Acute kidney injury NA CTD_human Detail
<0.001 SPHEROCYTOSIS, TYPE 1 (disorder) NA BeFree Detail
<0.001 Incontinentia pigmenti, familial male-lethal type NA BeFree Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were deter... BeFree,CTD_human,GAD,LHGDN 24913169 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary... BeFree,CTD_human,GAD,LHGDN 24943486 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase It has been documented that G6PD deficiency in sub-Saharan Africa is due to the ... BeFree,CTD_human,GAD,LHGDN 25015414 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD de... BeFree,CTD_human,GAD,LHGDN 25169987 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most comm... BeFree,CTD_human,GAD,LHGDN 25339475 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase Also, G-6-PD activity varies among female heterozygous neonates, and G-6-PD muta... BeFree,CTD_human,GAD,LHGDN 25632835 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase Haplotype analysis reveals the G6PD locus to be under balancing selection, sugge... BeFree,CTD_human,GAD,LHGDN 25671784 Detail
0.243 Deficiency of glucose-6-phosphate dehydrogenase We developed a PCR-reverse dot blot (RDB) assay to screen twenty genotypes of se... BeFree,CTD_human,GAD,LHGDN 25775246 Detail
0.080 Homocysteinemia NA RGD Detail
0.003 Infection NA LHGDN Detail
0.013 alpha-Thalassemia NA BeFree,GAD Detail
0.012 anemia NA BeFree,GAD,LHGDN Detail
0.145 Anemia, Hemolytic NA BeFree,CTD_human,GAD,LHGDN Detail
0.004 Anemia, Hemolytic, Congenital NA BeFree,LHGDN Detail
0.123 Anemia, Hemolytic, Congenital Nonspherocytic NA BeFree,CTD_human Detail
0.017 Anemia, Sickle Cell NA BeFree,GAD Detail
<0.001 Fabry disease NA BeFree Detail
<0.001 ataxia telangiectasia NA BeFree Detail
<0.001 Bacteremia NA BeFree Detail
0.007 beta thalassemia NA BeFree,GAD Detail
<0.001 bipolar disorder NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
Annotation

Annotations

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Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most common mutations causing... DisGeNET Detail
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited condit... DisGeNET Detail
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Hypoxia-induced glucose-6-phosphate dehydrogenase overexpression and -activation in pulmonary artery... DisGeNET Detail
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Misdiagnosis of G-6-PD deficiency in neonates, at risk of severe hemolytic episodes, extreme hyperbi... DisGeNET Detail
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Glucose-6-phosphate dehydrogenase polymorphisms and susceptibility to mild malaria in Dogon and Fula... DisGeNET Detail
Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that induces haemolysis in... DisGeNET Detail
In response to high frequency of malaria infection, several host genetic factors have been selected,... DisGeNET Detail
G6PD deficient subgroup had a marginally increased risk of malaria infection compared to the G6PD no... DisGeNET Detail
Blood samples for G6PD fluorescent spot test (FST), G6PD genotyping, and malaria testing were taken ... DisGeNET Detail
The use of primaquine and other 8-aminoquinolines for malaria elimination is hampered by, among othe... DisGeNET Detail
African glucose-6-phosphate dehydrogenase alleles associated with protection from severe malaria in ... DisGeNET Detail
G6PD gene variants and its association with malaria in a Sri Lankan population. DisGeNET Detail
Polymorphisms of G6PD did not significantly influence the prevalence malaria (P > 0.05). DisGeNET Detail
Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were determined in Ugandan chi... DisGeNET Detail
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In the present investigation, DNA samples from 17 patients with G6PD deficiency from Tianjin area in... DisGeNET Detail
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G6PD A- heterozygotes and hemizygotes/homozygotes experienced dose-dependent lower hemoglobin concen... DisGeNET Detail
By logistic regression, three clinical variables predicted G6PD status: maternal country of birth (P... DisGeNET Detail
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Glucose-6-phosphate dehydrogenase expression is correlated with poor clinical prognosis in esophagea... DisGeNET Detail
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In response to high frequency of malaria infection, several host genetic factors have been selected,... DisGeNET Detail
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Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&gt;Val) [DNA: C-to-T... DisGeNET Detail
Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&gt;Val) [DNA: C-to-T... DisGeNET Detail
Some examples include the alanine-to-valine substitution at codon 222 (Ala222--&gt;Val) [DNA: C-to-T... DisGeNET Detail
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Furthermore, high G6PD expression was tightly associated with histological grade, TNM staging and ly... DisGeNET Detail
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Moreover, how G6PD status alters the susceptibility of the affected individuals to certain degenerat... DisGeNET Detail
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Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were determined in Ugandan chi... DisGeNET Detail
Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary disease characteris... DisGeNET Detail
It has been documented that G6PD deficiency in sub-Saharan Africa is due to the 202A/376G G6PD A-all... DisGeNET Detail
The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi ... DisGeNET Detail
Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most common mutations causing... DisGeNET Detail
Also, G-6-PD activity varies among female heterozygous neonates, and G-6-PD mutation analysis provid... DisGeNET Detail
Haplotype analysis reveals the G6PD locus to be under balancing selection, suggesting a mechanism of... DisGeNET Detail
We developed a PCR-reverse dot blot (RDB) assay to screen twenty genotypes of seventeen Chinese G6PD... DisGeNET Detail
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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
rs386545618 dbSNP
Genome
hg38
Position
chrX:154,517,825-154,547,572
Variant Type
snv
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