focal segmental glomerulosclerosis |
Disease ID | 333 |
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Disease | focal segmental glomerulosclerosis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C1963185 | obesity C1963154 | renal failure C1962972 | proteinuria C1834580 | ramsay hunt syndrome C1565489 | renal insufficiency C0878486 | arteriolosclerosis C0403398 | steroid-dependent nephrotic syndrome C0403397 | steroid-resistant nephrotic syndrome C0268732 | nephritic syndrome C0220847 | hepatitis c C0027726 | nephrotic syndrome C0027720 | nephrosis C0022661 | chronic renal failure C0022660 | acute renal failure C0020473 | hyperlipidemia C0017665 | membranous nephropathy |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0027726 | nephrotic syndrome | 20 C0033687 | proteinuria | 14 C0403397 | steroid-resistant nephrotic syndrome | 5 C0035078 | renal failure | 5 C0268732 | nephritic syndrome | 2 C0017665 | membranous nephropathy | 1 C0022660 | acute renal failure | 1 C0027720 | nephrosis | 1 C0028754 | obesity | 1 C1565489 | renal insufficiency | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:17) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121908415 | NA | 81 | ACTN4 | umls:C0017668 | CLINVAR | NA | 0.252973128 | NA | ACTN4 | 19 | 38710286 | A | G |
rs121908415 | 18164029 | 81 | ACTN4 | umls:C0017668 | BeFree | Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. | 0.252973128 | 2008 | ACTN4 | 19 | 38710286 | A | G |
rs121908416 | NA | 81 | ACTN4 | umls:C0017668 | CLINVAR | NA | 0.252973128 | NA | ACTN4 | 19 | 38710299 | C | T |
rs121908417 | NA | 81 | ACTN4 | umls:C0017668 | CLINVAR | NA | 0.252973128 | NA | ACTN4 | 19 | 38710307 | T | C |
rs1799998 | 21777344 | 1585 | CYP11B2 | umls:C0017668 | BeFree | Influence of aldosterone synthase gene C-344T polymorphism on focal segmental glomerulosclerosis. | 0.000542884 | 2011 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
rs1799998 | 23681285 | 1585 | CYP11B2 | umls:C0017668 | BeFree | We also observed that the CYP11B2 -344C/T polymorphism in the recessive model may also be an independent significant risk factor of IgAN (OR = 2.743 (95% CI = 1.219-6.172, p = 0.0122, p(corr) = 0.0366)), FSGS (OR = 2.895 (95% CI = 1.200-6.985, p = 0.0145, p(corr) = 0.0435)), and all proliferative GNs (MesPGN, IgAN, MPGN) (OR = 2.171 (95% CI = 1.211-3.894, p = 0.0084, p(corr) = 0.0252)). | 0.000542884 | 2015 | CYP11B2;LOC105375793 | 8 | 142918184 | A | G |
rs200042397 | 20947785 | 7827 | NPHS2 | umls:C0017668 | BeFree | To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. | 0.144874301 | 2011 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
rs200042397 | 24715228 | 7827 | NPHS2 | umls:C0017668 | BeFree | The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. | 0.144874301 | 2014 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
rs200042397 | 23800802 | 7827 | NPHS2 | umls:C0017668 | BeFree | NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. | 0.144874301 | 2013 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
rs200042397 | 12464671 | 7827 | NPHS2 | umls:C0017668 | BeFree | NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. | 0.144874301 | 2002 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
rs200042397 | 12707396 | 7827 | NPHS2 | umls:C0017668 | BeFree | The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls. | 0.144874301 | 2003 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
rs2239785 | 20668430 | 8542 | APOL1 | umls:C0017668 | GAD | [A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.] | 0.00853425 | 2010 | APOL1 | 22 | 36265284 | G | A |
rs28939374 | 24940801 | 4736 | RPL10A | umls:C0017668 | BeFree | We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
rs28939374 | 24940801 | 81 | ACTN4 | umls:C0017668 | BeFree | We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age. | 0.252973128 | 2014 | NA | NA | NA | NA | NA |
rs28939374 | 24940801 | 28915 | IGKV3-7 | umls:C0017668 | BeFree | We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
rs386626619 | 25366011 | 3717 | JAK2 | umls:C0017668 | BeFree | A kidney biopsy showed focal segmental glomerulosclerosis (FSGS) with interstitial neutrophil infiltration and with a JAK2 V617F mutation. | 0.000271442 | 2015 | NA | NA | NA | NA | NA |
rs77375493 | 25366011 | 3717 | JAK2 | umls:C0017668 | BeFree | A kidney biopsy showed focal segmental glomerulosclerosis (FSGS) with interstitial neutrophil infiltration and with a JAK2 V617F mutation. | 0.000271442 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:22) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0017668 | benazepril | C044946 | 86541-75-5 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 11867951 | ||
C0017668 | caffeine | D002110 | 1958/8/2 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 10803761 | ||
C0017668 | cyclophosphamide | D003520 | 50-18-0 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 15334202 | ||
C0017668 | cyclosporine | D016572 | 59865-13-3 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 8289993 | ||
C0017668 | enalapril | D004656 | 75847-73-3 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 18682491 | ||
C0017668 | fenoprofen | D005279 | 31879-05-7 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 10052505 | ||
C0017668 | indomethacin | D007213 | 53-86-1 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 11849393 | ||
C0017668 | norepinephrine | D009638 | 51-41-2 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 19858406 | ||
C0017668 | pamidronate | C019248 | 40391-99-9 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 11979358 | ||
C0017668 | paricalcitol | C084656 | - | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 17513326 | ||
C0017668 | propylthiouracil | D011441 | 51-52-5 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 17435868 | ||
C0017668 | propylthiouracil | D011441 | 51-52-5 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 9695308 | ||
C0017668 | reserpine | D012110 | 50-55-5 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 2996345 | ||
C0017668 | sirolimus | D020123 | 53123-88-9 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 17362756 | ||
C0017668 | sirolimus | D020123 | 53123-88-9 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 17550925 | ||
C0017668 | spironolactone | D013148 | 1952/1/7 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 19429930 | ||
C0017668 | streptozocin | D013311 | 18883-66-4 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 10777035 | ||
C0017668 | tacrolimus | D016559 | 109581-93-3 | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 9855119 | ||
C0017668 | tacrolimus | D016559 | 109581-93-3 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 15221068 | ||
C0017668 | temsirolimus | C401859 | - | glomerulosclerosis, focal segmental | MESH:D005923 | marker/mechanism | 19212144 | ||
C0017668 | tretinoin | D014212 | 302-79-4 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 19357873 | ||
C0017668 | vitamin e | D014810 | 1406-18-4 | glomerulosclerosis, focal segmental | MESH:D005923 | therapeutic | 7787149 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |