eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| focal segmental glomerulosclerosis | ||||
| Disease ID | 791 |
|---|---|
| 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:9) C0027726 | nephrotic syndrome | 20 C0033687 | proteinuria | 14 C0403397 | steroid-resistant nephrotic syndrome | 5 C0035078 | renal failure | 4 C0268732 | nephritic syndrome | 2 C1565489 | renal insufficiency | 1 C0017665 | membranous nephropathy | 1 C0028754 | obesity | 1 C0022660 | acute renal failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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.) |
| Disease ID | 791 |
|---|---|
| Disease | focal segmental glomerulosclerosis |
| Case | (Waiting for update.) |