eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nephrotic syndrome | ||||
| Disease ID | 407 |
|---|---|
| Disease | nephrotic syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:202) C2700526 | erythrocytosis C2700513 | aplastic anemia C2585960 | heterozygous protein c deficiency C2364133 | infection C2062980 | pneumococcal peritonitis C2062979 | spontaneous bacterial peritonitis C2025995 | cellulitis C1963266 | uveitis C1963211 | pericarditis C1963154 | renal failure C1963138 | hypertension C1963091 | diarrhea C1962972 | proteinuria C1962966 | retinopathy C1961100 | erectile dysfunction C1959629 | seizure C1956391 | temporal arteritis C1839611 | n syndrome C1735914 | recurrent pulmonary embolism C1704212 | embolism C1567741 | hereditary nephritis C1555754 | cardiovascular disease C1522133 | hypercholesterolemia C1421375 | congenital erythropoietic porphyria C1412610 | antithrombin iii deficiency C1398810 | glomerulopathy C1373218 | immunosuppression C1368829 | hyperalimentation C1366529 | familial hypercholesterolemia C1333523 | factor vii deficiency C1253937 | pericardial effusion C1000483 | anemia C0878787 | growth failure C0876993 | ventricular thrombosis C0856759 | unilateral renal artery stenosis C0856169 | endothelial dysfunction C0854142 | aortic thrombosis C0853689 | secondary hyperlipidemia C0850705 | acquired toxoplasmosis C0747111 | ovarian vein thrombosis C0743971 | chronic fever C0740985 | acute anemia C0740577 | acute abdominal pain C0730345 | microalbuminuria C0730302 | progressive outer retinal necrosis C0729233 | dissecting aneurysm of the thoracic aorta C0699885 | carcinoma of urinary bladder C0684249 | lung cancer C0677886 | ovarian carcinoma C0558354 | carcinoma of the palate C0546817 | fluid overload C0517555 | venous thrombosis C0403447 | chronic renal disease C0398625 | protein c deficiency C0398623 | thrombophilia C0398623 | hypercoagulable state C0398623 | hypercoagulability C0393972 | spinal cord infarction C0376545 | hematological malignancies C0376185 | hyporeninemic hypoaldosteronism C0349530 | early gastric cancer C0348996 | disseminated strongyloidiasis C0342951 | hypervitaminosis C0338575 | superior sagittal sinus thrombosis C0338573 | intracranial venous sinus thrombosis C0338573 | cerebral venous sinus thrombosis C0334316 | hypernephroid tumor C0334121 | inflammatory myofibroblastic tumor C0333497 | segmental glomerulosclerosis C0333245 | massive oedema C0281479 | systemic amyloidosis C0281479 | primary systemic amyloidosis C0280089 | pulmonary carcinoid tumor C0280089 | carcinoid tumor of the lung C0276687 | disseminated cryptococcosis C0275583 | pulmonary nocardiosis C0272375 | antithrombin deficiency C0270612 | leukoencephalopathy C0268731 | glomerular diseases C0268731 | glomerular disease C0268709 | renal tubular defect C0268382 | renal amyloidosis C0265251 | taybi syndrome C0265050 | vena cava thrombosis C0263361 | psoriasis vulgaris C0259744 | dysproteinemia C0242339 | dyslipidemias C0242339 | dyslipidemia C0242339 | dyslipidaemia C0240035 | interstitial fibrosis C0238457 | renal vein thrombosis C0235950 | zinc deficiency C0235259 | subcapsular cataracts C0221757 | alpha 1-antitrypsin deficiency C0221406 | cushing's disease C0221239 | rapidly progressive glomerulonephritis C0221238 | mesangial proliferative glomerulonephritis C0206182 | lymphomatoid papulosis C0205721 | nosocomial infection C0162557 | fulminant hepatic failure C0154251 | lipid metabolism disorders C0154251 | lipid disorders C0154251 | disorders of lipid metabolism C0152456 | strawberry gallbladder C0151945 | cerebral venous thrombosis C0151942 | arterial thrombosis C0149985 | secondary syphilis C0149937 | acute interstitial nephritis C0149925 | small cell lung cancer C0149871 | deep-vein thrombosis C0087086 | thrombi C0086438 | hypogammaglobulinemia C0062527 | hepatitis b C0043121 | wernicke's encephalopathy C0042029 | urinary tract infection C0041912 | upper respiratory infections C0041782 | deficiency anemia C0040560 | congenital toxoplasmosis C0040558 | toxoplasmosis C0040053 | thrombosis C0040038 | thromboembolism C0039263 | takayasu's disease C0039263 | takayasu's arteritis C0038463 | strongyloidiasis C0038454 | cerebral infarction C0037889 | hereditary spherocytosis C0037278 | skin infection C0036992 | short bowel syndrome C0035305 | retinal detachments C0034074 | pulmonary infarction C0034065 | pulmonary embolism C0033838 | kimura's disease C0032587 | polyradiculoneuropathy C0032461 | polycythaemia C0032285 | pneumonitis C0032285 | pneumoniae C0031306 | phagocytic dysfunction C0031154 | peritonitis C0030804 | cicatricial pemphigoid C0029405 | hyperparathyroid bone disease C0027697 | nephritis C0027092 | myopia C0027051 | myocardial infarction C0026764 | myeloma C0026265 | mitral valve disease C0025289 | meningitis C0024419 | macroglobulinemia C0024314 | lymphoproliferative disease C0024141 | systemic lupus erythematosus C0023890 | liver cirrhosis C0023479 | acute myelomonocytic leukemia C0023467 | acute myeloid leukemia C0023434 | chronic lymphocytic leukemia C0022679 | cystic kidney C0022661 | end-stage renal failure C0022661 | chronic renal failure C0022660 | acute renal failure C0022398 | hyperimmunoglobulin e syndrome C0021933 | intussusception C0020981 | angioimmunoblastic lymphadenopathy with dysproteinemia (aild) C0020639 | hypoproteinemia C0020625 | hyponatremia C0020545 | renovascular hypertension C0020488 | sodium retention C0020476 | hyperlipoproteinemia C0020473 | hyperlipidemia C0020473 | hyperlipidaemia C0020473 | hyperlipemia C0020438 | hypercalciuria C0020428 | hyperaldosteronism C0020312 | hydrothorax C0019104 | hemorrhagic fever C0018021 | goiter C0017668 | focal segmental glomerulosclerosis C0017665 | membranous nephropathy C0017662 | membranoproliferative glomerulonephritis C0017661 | iga nephropathy C0017658 | glomerulonephritis C0015526 | factor xii deficiency C0015499 | factor v deficiency C0014118 | endocarditis C0014009 | empyema C0013604 | oedema C0013502 | hydatid disease C0011854 | type 1 diabetes mellitus C0010481 | cushing syndrome C0010346 | crohn's disease C0010068 | coronary heart disease C0008732 | chylous ascites C0008732 | chyloperitoneum C0008049 | chickenpox C0006840 | candidosis C0005944 | metabolic bone disease C0005940 | bone disease C0005779 | coagulopathy C0004659 | bacteriuria C0004623 | bacterial infection C0004153 | atherosclerosis C0002871 | anaemia C0001197 | acrodermatitis C0000737 | abdominal pain C0000727 | acute abdomen |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:67) C0033687 | proteinuria | 46 C0017665 | membranous nephropathy | 21 C0035078 | renal failure | 15 C0040053 | thrombosis | 14 C0009450 | infection | 13 C0017658 | glomerulonephritis | 13 C0333497 | segmental glomerulosclerosis | 12 C0017668 | focal segmental glomerulosclerosis | 11 C0027697 | nephritis | 9 C0017661 | iga nephropathy | 8 C0040038 | thromboembolism | 7 C0398623 | hypercoagulable state | 6 C0033838 | kimura's disease | 5 C0022660 | acute renal failure | 5 C0020473 | hyperlipidemia | 4 C0042487 | venous thrombosis | 4 C0149985 | secondary syphilis | 4 C1398810 | glomerulopathy | 4 C0155776 | renal vein thrombosis | 3 C0031154 | peritonitis | 3 C0022679 | cystic kidney | 3 C0019163 | hepatitis b | 3 C1839611 | n syndrome | 3 C0004153 | atherosclerosis | 3 C0007785 | cerebral infarction | 3 C0398623 | hypercoagulability | 3 C0034065 | pulmonary embolism | 2 C0268382 | renal amyloidosis | 2 C0024141 | systemic lupus erythematosus | 2 C0013604 | oedema | 2 C0021079 | immunosuppression | 2 C0268731 | glomerular disease | 2 C0020443 | hypercholesterolemia | 2 C0013922 | embolism | 2 C0010346 | crohn's disease | 2 C0020488 | sodium retention | 2 C0022661 | chronic renal failure | 2 C0242339 | dyslipidemia | 2 C0546817 | fluid overload | 1 C0004623 | bacterial infection | 1 C0000737 | abdominal pain | 1 C0020538 | hypertension | 1 C0376545 | hematological malignancies | 1 C0027051 | myocardial infarction | 1 C0005779 | coagulopathy | 1 C0240035 | interstitial fibrosis | 1 C0002871 | anemia | 1 C0021933 | intussusception | 1 C1527405 | erythrocytosis | 1 C0276687 | disseminated cryptococcosis | 1 C0854142 | aortic thrombosis | 1 C0020545 | renovascular hypertension | 1 C0010068 | coronary heart disease | 1 C0338573 | cerebral venous sinus thrombosis | 1 C0221239 | rapidly progressive glomerulonephritis | 1 C0008732 | chylous ascites | 1 C0151942 | arterial thrombosis | 1 C0242379 | lung cancer | 1 C0730345 | microalbuminuria | 1 C0032587 | polyradiculoneuropathy | 1 C0086438 | hypogammaglobulinemia | 1 C0008732 | chyloperitoneum | 1 C0022661 | end-stage renal failure | 1 C0035309 | retinopathy | 1 C0020639 | hypoproteinemia | 1 C0032461 | polycythaemia | 1 C0042029 | urinary tract infection | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SMARCAL1 | SMARCAL1:NM_001127207:exon6:c.1144_1145insT:p.L382fs,SMARCAL1:NM_014140:exon6:c.1144_1145insT:p.L382fs | doi:10.1038/gim.2016.37 | Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1045642 | 23994685 | 5243 | ABCB1 | umls:C0027726 | BeFree | Our data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk factors of increased susceptibility, earlier onset of NS, and steroid resistance. | 0.003452799 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
| rs16946160 | 21441931 | 2262 | GPC5 | umls:C0027726 | GAD | [Common variation in GPC5 is associated with acquired nephrotic syndrome.] | 0.242638474 | 2011 | GPC5 | 13 | 91551559 | G | A |
| rs16946160 | 21441931 | 2262 | GPC5 | umls:C0027726 | GWASCAT | Common variation in GPC5 is associated with acquired nephrotic syndrome. | 0.242638474 | 2011 | GPC5 | 13 | 91551559 | G | A |
| rs200042397 | 16752799 | 7827 | NPHS2 | umls:C0027726 | BeFree | A functional polymorphism of NPHS2 gene--R229Q was associated with a late-onset nephrotic syndrome and also with an increased risk of microalbuminuria in the general population. | 0.300654662 | 2006 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
| rs200042397 | 23515051 | 7827 | NPHS2 | umls:C0027726 | BeFree | Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. | 0.300654662 | 2013 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
| rs200042397 | 24072153 | 7827 | NPHS2 | umls:C0027726 | BeFree | R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. | 0.300654662 | 2013 | NPHS2;AXDND1 | 1 | 179552616 | T | C |
| rs2032582 | 23994685 | 5243 | ABCB1 | umls:C0027726 | BeFree | Our data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk factors of increased susceptibility, earlier onset of NS, and steroid resistance. | 0.003452799 | 2013 | ABCB1 | 7 | 87531302 | A | T,C |
| rs33388 | 18343955 | 595 | CCND1 | umls:C0027726 | BeFree | We genotyped 118 children diagnosed with NS who initially responded to oral GC treatment [steroid-responsive nephrotic syndrome (SRNS) group] and 136 healthy children for three intron B single nucleotide polymorphisms of NR3C1, namely Bcl I (C/G), rs33389 (C/T) and rs33388 (A/T). | 0.000271442 | 2008 | NR3C1 | 5 | 143317730 | A | T |
| rs33389 | 18343955 | 595 | CCND1 | umls:C0027726 | BeFree | We genotyped 118 children diagnosed with NS who initially responded to oral GC treatment [steroid-responsive nephrotic syndrome (SRNS) group] and 136 healthy children for three intron B single nucleotide polymorphisms of NR3C1, namely Bcl I (C/G), rs33389 (C/T) and rs33388 (A/T). | 0.000271442 | 2008 | NR3C1 | 5 | 143320934 | C | T |
| rs3814995 | 24231487 | 4868 | NPHS1 | umls:C0027726 | BeFree | We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L). | 0.116148884 | 2014 | NPHS1;KIRREL2 | 19 | 35851310 | C | G,T |
| rs3814995 | 24231487 | 7827 | NPHS2 | umls:C0027726 | BeFree | We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L). | 0.300654662 | 2014 | NPHS1;KIRREL2 | 19 | 35851310 | C | G,T |
| rs386833892 | 20172850 | 4868 | NPHS1 | umls:C0027726 | BeFree | Surprisingly, out of the two siblings with the homozygous novel mutation L587R in NPHS1, only one developed nephrotic syndrome before the age of 90 days, while the other one did not manifest until the age of 2 years. | 0.116148884 | 2010 | NPHS1 | 19 | 35845538 | A | C |
| rs437168 | 25599733 | 4868 | NPHS1 | umls:C0027726 | BeFree | Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. | 0.116148884 | 2014 | NPHS1 | 19 | 35843517 | G | A,C |
| rs437168 | 25599733 | 7827 | NPHS2 | umls:C0027726 | BeFree | Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. | 0.300654662 | 2014 | NPHS1 | 19 | 35843517 | G | A,C |
| rs61747728 | 25599733 | 4868 | NPHS1 | umls:C0027726 | BeFree | Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. | 0.116148884 | 2014 | NPHS2 | 1 | 179557079 | C | T |
| rs61747728 | 25599733 | 7827 | NPHS2 | umls:C0027726 | BeFree | Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. | 0.300654662 | 2014 | NPHS2 | 1 | 179557079 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 13 | 92203813 | rs16946160 | G | A | rs16946160 | 21441931 | 3.00E-07 | NA | 1.39 | [1.22-1.57] | 195 Japanese ancestry cases; 1,546 Japanese ancestry controls | Japanese(1741) | ALL(1741) | ASN(1741) | ALL(1741) | Nephrotic syndrome (acquired) | HPOID:0000100 | Nephrotic syndrome | DOID:1184 | nephrotic syndrome | D009404 | Nephrotic Syndrome | NA | NA | Nephrosis | rs16946160-A | Research Support, Non-U.S. Gov't | G | GPC5 |
| 20 | 46779235 | rs11086243 | C | T | rs11086243 | 21441931 | 3.00E-06 | NA | 1.37 | [1.20-1.57] | 195 Japanese ancestry cases; 1,546 Japanese ancestry controls | Japanese(1741) | ALL(1741) | ASN(1741) | ALL(1741) | Nephrotic syndrome (acquired) | HPOID:0000100 | Nephrotic syndrome | DOID:1184 | nephrotic syndrome | D009404 | Nephrotic Syndrome | NA | NA | Nephrosis | rs11086243-T | Research Support, Non-U.S. Gov't | T | NA |
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 | 407 |
|---|---|
| Disease | nephrotic syndrome |
| Case | (Waiting for update.) |