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Pediatric Disease Annotations & Medicines



   nephrotic syndrome
  

Disease ID 185
Disease nephrotic syndrome
Definition
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Synonym
#NAME?
nephrotic syndrome (disorder)
nephrotic syndrome [disease/finding]
nephrotic syndrome nos
nephrotic syndrome nos (disorder)
nephrotic syndrome, nos
nephrotic syndromes
ns - nephrotic syndrome
syndrome nephrotic
syndrome, nephrotic
syndromes, nephrotic
DOID
UMLS
C0027726
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:196)
C0033687  |  proteinuria  |  54
C0022658  |  nephropathy  |  36
C0017665  |  membranous nephropathy  |  21
C0035078  |  renal failure  |  16
C0040053  |  thrombosis  |  15
C0017658  |  glomerulonephritis  |  15
C0178664  |  glomerulosclerosis  |  15
C0017668  |  focal segmental glomerulosclerosis  |  11
C0002726  |  amyloidosis  |  10
C0017661  |  iga nephropathy  |  9
C0027697  |  nephritis  |  9
C0022658  |  kidney disease  |  8
C0398623  |  hypercoagulable state  |  6
C0020676  |  hypothyroidism  |  5
C0033838  |  kimura's disease  |  5
C0022660  |  acute renal failure  |  5
C0007785  |  cerebral infarction  |  4
C0024143  |  lupus nephritis  |  4
C0011881  |  diabetic nephropathy  |  4
C0031154  |  peritonitis  |  4
C0149985  |  secondary syphilis  |  4
C0039128  |  syphilis  |  4
C0007785  |  cerebral infarct  |  4
C0022658  |  renal disease  |  4
C0024141  |  systemic lupus erythematosus  |  3
C0238198  |  gastrointestinal stromal tumor  |  3
C0019163  |  hepatitis b  |  3
C1565489  |  renal insufficiency  |  3
C0022679  |  cystic kidney  |  3
C0034150  |  purpura  |  3
C0024299  |  lymphoma  |  3
C0019158  |  hepatitis  |  3
C0085413  |  autosomal dominant polycystic kidney  |  3
C0004153  |  atherosclerosis  |  3
C0879615  |  stromal tumor  |  3
C0398623  |  hypercoagulability  |  3
C0085413  |  autosomal dominant polycystic kidney disease  |  3
C0034065  |  pulmonary embolism  |  3
C0017665  |  membranous glomerulonephritis  |  2
C0021831  |  bowel disease  |  2
C0040100  |  thymoma  |  2
C0018801  |  heart failure  |  2
C0009324  |  ulcerative colitis  |  2
C0235618  |  proliferative glomerulonephritis  |  2
C0022661  |  chronic renal failure  |  2
C0035078  |  kidney failure  |  2
C0022661  |  end-stage renal disease  |  2
C0022661  |  chronic kidney disease  |  2
C0032285  |  pneumonia  |  2
C0026691  |  kawasaki disease  |  2
C0010414  |  cryptococcosis  |  2
C0031069  |  familial mediterranean fever  |  2
C0019196  |  hepatitis c  |  2
C0025958  |  microcephaly  |  2
C0020757  |  ichthyosis  |  2
C0020443  |  hypercholesterolemia  |  2
C0409974  |  lupus erythematosus  |  2
C0020538  |  hypertension  |  2
C0010346  |  crohn's disease  |  2
C0037198  |  sinus thrombosis  |  2
C0029456  |  osteoporosis  |  2
C0023281  |  leishmaniasis  |  1
C0027051  |  myocardial infarct  |  1
C0007134  |  renal cell carcinoma  |  1
C0040053  |  thrombus  |  1
C0013502  |  hydatid cyst  |  1
C0020538  |  vascular hypertension  |  1
C0220647  |  carcinoma of unknown primary  |  1
C0007177  |  pericardial tamponade  |  1
C0015190  |  euthyroid sick syndrome  |  1
C0152025  |  polyneuropathy  |  1
C0302592  |  carcinoma of the cervix  |  1
C0376545  |  hematological malignancies  |  1
C0040147  |  thyroiditis  |  1
C0023234  |  perthes disease  |  1
C0024530  |  malaria  |  1
C0021933  |  intussusception  |  1
C0006267  |  bronchiectasis  |  1
C0302592  |  cervical ca  |  1
C0011991  |  diarrhoea  |  1
C0018802  |  congestive heart failure  |  1
C0018378  |  guillain-barre syndrome  |  1
C0023195  |  lcat deficiency  |  1
C0345967  |  malignant mesothelioma  |  1
C0002871  |  anemia  |  1
C0030328  |  weber-christian disease  |  1
C0032461  |  polycythaemia  |  1
C0028242  |  nocardiosis  |  1
C0021390  |  inflammatory bowel disease  |  1
C0042769  |  virus infection  |  1
C0280131  |  ovarian teratoma  |  1
C0221239  |  rapidly progressive glomerulonephritis  |  1
C0152013  |  lung adenocarcinoma  |  1
C0019829  |  hodgkin lymphoma  |  1
C0024305  |  non-hodgkin lymphoma  |  1
C0027708  |  wilms' tumor  |  1
C0004623  |  bacterial infection  |  1
C0278846  |  invasive thymoma  |  1
C0152018  |  esophageal carcinoma  |  1
C0017665  |  membranous glomerulopathy  |  1
C0039730  |  thalassemia  |  1
C0036319  |  schistosoma mansoni  |  1
C0001418  |  adenocarcinoma  |  1
C2717836  |  steroid sulfatase deficiency  |  1
C0687720  |  central diabetes insipidus  |  1
C0001126  |  renal tubular acidosis  |  1
C0015519  |  factor x deficiency  |  1
C0340305  |  inferior myocardial infarction  |  1
C0036472  |  tsutsugamushi  |  1
C0027819  |  neuroblastoma  |  1
C0010068  |  coronary heart disease  |  1
C1527336  |  sjogren's syndrome  |  1
C0024419  |  macroglobulinaemia  |  1
C0302592  |  cervical carcinoma  |  1
C1527411  |  retinal vein thrombosis  |  1
C0011884  |  diabetic retinopathy  |  1
C0001363  |  acute mesenteric ischemia  |  1
C0018799  |  heart disease  |  1
C0018051  |  gonadal dysgenesis  |  1
C0012739  |  disseminated intravascular coagulation  |  1
C0033838  |  kimura disease  |  1
C0007785  |  cerebral infarctions  |  1
C0035309  |  retinopathy  |  1
C0878544  |  cardiomyopathy  |  1
C0024236  |  lymphedema  |  1
C0684249  |  lung carcinoma  |  1
C0079774  |  peripheral t cell lymphoma  |  1
C0524988  |  schnitzler syndrome  |  1
C0032305  |  pneumocystis jiroveci pneumonia  |  1
C0022672  |  acute tubular necrosis  |  1
C0036472  |  tsutsugamushi disease  |  1
C0085655  |  polymyositis  |  1
C0151650  |  renal fibrosis  |  1
C0001621  |  adrenal disorders  |  1
C0346109  |  peritoneal mesothelioma  |  1
C0026946  |  mycosis  |  1
C0023484  |  plasma cell leukaemia  |  1
C0024419  |  waldenstrom's macroglobulinaemia  |  1
C0004623  |  bacterial infections  |  1
C0011847  |  diabetes  |  1
C0018802  |  congestive cardiac failure  |  1
C0015974  |  periodic fever  |  1
C0812413  |  malignant pleural mesothelioma  |  1
C0002895  |  sickle cell disease  |  1
C0014859  |  esophageal cancer  |  1
C0021053  |  immune disease  |  1
C0027708  |  wilms' tumour  |  1
C0001623  |  adrenal insufficiency  |  1
C0268713  |  congenital nephrotic syndrome  |  1
C0008354  |  vibrio cholerae  |  1
C0376545  |  hematological malignancy  |  1
C0001824  |  agranulocytosis  |  1
C0205969  |  malignant thymoma  |  1
C0268450  |  gitelman's syndrome  |  1
C0011615  |  atopic dermatitis  |  1
C0022661  |  end stage renal disease  |  1
C0034152  |  henoch-schonlein purpura  |  1
C0178664  |  glomerular sclerosis  |  1
C0011848  |  diabetes insipidus  |  1
C0341950  |  severe pre-eclampsia  |  1
C0004096  |  asthma  |  1
C0023487  |  acute promyelocytic leukemia  |  1
C1561644  |  chronic kidney disease (ckd)  |  1
C0001175  |  acquired immunodeficiency syndrome  |  1
C0022658  |  renal disorders  |  1
C0041296  |  tuberculosis  |  1
C0008728  |  churg-strauss syndrome  |  1
C1377913  |  pleural mesothelioma  |  1
C0011860  |  type 2 diabetes  |  1
C0027051  |  myocardial infarction  |  1
C0017574  |  gingivitis  |  1
C0155550  |  neural deafness  |  1
C0022661  |  end-stage renal failure  |  1
C0041471  |  typhus  |  1
C0278678  |  metastatic renal cell carcinoma  |  1
C0020545  |  renovascular hypertension  |  1
C0079588  |  x-linked recessive ichthyosis  |  1
C0740394  |  hyperuricemia  |  1
C0242379  |  lung cancer  |  1
C0038013  |  ankylosing spondylitis  |  1
C0032587  |  polyradiculoneuropathy  |  1
C0268407  |  cardiac amyloidosis  |  1
C0036202  |  sarcoidosis  |  1
C0079584  |  ichthyosis vulgaris  |  1
C0018784  |  sensorineural deafness  |  1
C0007642  |  cellulitis  |  1
C0242647  |  malt lymphoma  |  1
C0017658  |  glomerulonephritides  |  1
C0026147  |  primary lymphedema  |  1
C0041956  |  ureteric obstruction  |  1
C0038012  |  spondylitis  |  1
C0026769  |  multiple sclerosis  |  1
C0018801  |  cardiac failure  |  1
C0007194  |  hypertrophic cardiomyopathy  |  1
C0036472  |  scrub typhus  |  1
C0699791  |  gastric carcinoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:21)
HLA-DRB1  |  3123  |  CTD_human
SOD2  |  6648  |  CTD_human
TGFB1  |  7040  |  CTD_human
COL4A1  |  1282  |  CTD_human
COL1A1  |  1277  |  CTD_human
NPHS2  |  7827  |  CTD_human
GUCA2B  |  2981  |  CTD_human
ALB  |  213  |  CTD_human
IL2  |  3558  |  CTD_human
SERPINE1  |  5054  |  CTD_human
HSD11B2  |  3291  |  CTD_human
SERPINC1  |  462  |  CTD_human
TF  |  7018  |  CTD_human
GPC5  |  2262  |  CTD_human;GWASCAT
F3  |  2152  |  CTD_human
A2M  |  2  |  CTD_human
FGF2  |  2247  |  CTD_human
CD2  |  914  |  CTD_human
COL4A2  |  1284  |  CTD_human
NCK2  |  8440  |  CTD_human
NCK1  |  4690  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:27)
5243  |  ABCB1  |  infer
1636  |  ACE  |  infer
348  |  APOE  |  infer
2207  |  FCER1G  |  infer
2262  |  GPC5  |  infer
2944  |  GSTM1  |  infer
2950  |  GSTP1  |  infer
2952  |  GSTT1  |  infer
3105  |  HLA-A  |  infer
3119  |  HLA-DQB1  |  infer
3123  |  HLA-DRB1  |  infer
3596  |  IL13  |  infer
3553  |  IL1B  |  infer
3557  |  IL1RN  |  infer
3565  |  IL4  |  infer
3566  |  IL4R  |  infer
3569  |  IL6  |  infer
3913  |  LAMB2  |  infer
4282  |  MIF  |  infer
4868  |  NPHS1  |  infer
7827  |  NPHS2  |  infer
2908  |  NR3C1  |  infer
170552  |  SRMP1  |  infer
6778  |  STAT6  |  infer
7040  |  TGFB1  |  infer
7124  |  TNF  |  infer
7490  |  WT1  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:347)
3675  |  ITGA3  |  DISEASES
5536  |  PPP5C  |  DISEASES
608  |  TNFRSF17  |  DISEASES
340533  |  KIAA2022  |  DISEASES
3566  |  IL4R  |  DISEASES
359  |  AQP2  |  DISEASES
1071  |  CETP  |  DISEASES
3053  |  SERPIND1  |  DISEASES
4282  |  MIF  |  DISEASES
57026  |  PDXP  |  DISEASES
4627  |  MYH9  |  DISEASES
412  |  STS  |  DISEASES
2158  |  F9  |  DISEASES
4210  |  MEFV  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
2217  |  FCGRT  |  DISEASES
7040  |  TGFB1  |  DISEASES
973  |  CD79A  |  DISEASES
5444  |  PON1  |  DISEASES
8976  |  WASL  |  DISEASES
5054  |  SERPINE1  |  DISEASES
113263  |  GLCCI1  |  DISEASES
4353  |  MPO  |  DISEASES
6347  |  CCL2  |  DISEASES
7448  |  VTN  |  DISEASES
173  |  AFM  |  DISEASES
3558  |  IL2  |  DISEASES
345  |  APOC3  |  DISEASES
3458  |  IFNG  |  DISEASES
57122  |  NUP107  |  DISEASES
2597  |  GAPDH  |  DISEASES
55907  |  CMAS  |  DISEASES
3565  |  IL4  |  DISEASES
2908  |  NR3C1  |  DISEASES
3273  |  HRG  |  DISEASES
7035  |  TFPI  |  DISEASES
338  |  APOB  |  DISEASES
3485  |  IGFBP2  |  DISEASES
5657  |  PRTN3  |  DISEASES
335  |  APOA1  |  DISEASES
7276  |  TTR  |  DISEASES
5311  |  PKD2  |  DISEASES
29094  |  LGALSL  |  DISEASES
718  |  C3  |  DISEASES
10047  |  CST8  |  DISEASES
5199  |  CFP  |  DISEASES
821  |  CANX  |  DISEASES
391013  |  PLA2G2C  |  DISEASES
3315  |  HSPB1  |  DISEASES
968  |  CD68  |  DISEASES
3630  |  INS  |  DISEASES
80714  |  PBX4  |  DISEASES
5894  |  RAF1  |  DISEASES
348  |  APOE  |  DISEASES
81  |  ACTN4  |  DISEASES
2056  |  EPO  |  DISEASES
3911  |  LAMA5  |  DISEASES
10343  |  PKDREJ  |  DISEASES
2161  |  F12  |  DISEASES
1401  |  CRP  |  DISEASES
325  |  APCS  |  DISEASES
6341  |  SCO1  |  DISEASES
4608  |  MYBPH  |  DISEASES
271  |  AMPD2  |  DISEASES
81494  |  CFHR5  |  DISEASES
4677  |  NARS  |  DISEASES
2799  |  GNS  |  DISEASES
5279  |  PIGC  |  DISEASES
3569  |  IL6  |  DISEASES
3557  |  IL1RN  |  DISEASES
27179  |  IL36A  |  DISEASES
27283  |  TINAG  |  DISEASES
51196  |  PLCE1  |  DISEASES
9360  |  PPIG  |  DISEASES
4069  |  LYZ  |  DISEASES
29121  |  CLEC2D  |  DISEASES
55746  |  NUP133  |  DISEASES
7450  |  VWF  |  DISEASES
57534  |  MIB1  |  DISEASES
949  |  SCARB1  |  DISEASES
9172  |  MYOM2  |  DISEASES
56052  |  ALG1  |  DISEASES
57017  |  COQ9  |  DISEASES
25939  |  SAMHD1  |  DISEASES
1  |  A1BG  |  DISEASES
23523  |  CABIN1  |  DISEASES
3553  |  IL1B  |  DISEASES
6403  |  SELP  |  DISEASES
4036  |  LRP2  |  DISEASES
3931  |  LCAT  |  DISEASES
941  |  CD80  |  DISEASES
8916  |  HERC3  |  DISEASES
23530  |  NNT  |  DISEASES
3818  |  KLKB1  |  DISEASES
5443  |  POMC  |  DISEASES
3383  |  ICAM1  |  DISEASES
306  |  ANXA3  |  DISEASES
6550  |  SLC9A3  |  DISEASES
3827  |  KNG1  |  DISEASES
259  |  AMBP  |  DISEASES
56302  |  TRPV5  |  DISEASES
5243  |  ABCB1  |  DISEASES
6595  |  SMARCA2  |  DISEASES
3263  |  HPX  |  DISEASES
1583  |  CYP11A1  |  DISEASES
8128  |  ST8SIA2  |  DISEASES
8826  |  IQGAP1  |  DISEASES
6687  |  SPG7  |  DISEASES
396  |  ARHGDIA  |  DISEASES
5972  |  REN  |  DISEASES
185  |  AGTR1  |  DISEASES
10699  |  CORIN  |  DISEASES
10788  |  IQGAP2  |  DISEASES
3439  |  IFNA1  |  DISEASES
3934  |  LCN2  |  DISEASES
2206  |  MS4A2  |  DISEASES
3606  |  IL18  |  DISEASES
5800  |  PTPRO  |  DISEASES
7082  |  TJP1  |  DISEASES
5741  |  PTH  |  DISEASES
22925  |  PLA2R1  |  DISEASES
55079  |  FEZF2  |  DISEASES
8526  |  DGKE  |  DISEASES
23165  |  NUP205  |  DISEASES
2040  |  STOM  |  DISEASES
3156  |  HMGCR  |  DISEASES
4643  |  MYO1E  |  DISEASES
4690  |  NCK1  |  DISEASES
1636  |  ACE  |  DISEASES
56894  |  AGPAT3  |  DISEASES
3046  |  HBE1  |  DISEASES
6352  |  CCL5  |  DISEASES
58191  |  CXCL16  |  DISEASES
2215  |  FCGR3B  |  DISEASES
4880  |  NPPC  |  DISEASES
213  |  ALB  |  DISEASES
5473  |  PPBP  |  DISEASES
5196  |  PF4  |  DISEASES
7098  |  TLR3  |  DISEASES
55582  |  KIF27  |  DISEASES
11244  |  ZHX1  |  DISEASES
360  |  AQP3  |  DISEASES
5267  |  SERPINA4  |  DISEASES
90678  |  LRSAM1  |  DISEASES
51117  |  COQ4  |  DISEASES
51129  |  ANGPTL4  |  DISEASES
3479  |  IGF1  |  DISEASES
255738  |  PCSK9  |  DISEASES
8988  |  HSPB3  |  DISEASES
1493  |  CTLA4  |  DISEASES
3596  |  IL13  |  DISEASES
4330  |  MN1  |  DISEASES
9655  |  SOCS5  |  DISEASES
7369  |  UMOD  |  DISEASES
157570  |  ESCO2  |  DISEASES
6383  |  SDC2  |  DISEASES
54205  |  CYCS  |  DISEASES
10855  |  HPSE  |  DISEASES
2147  |  F2  |  DISEASES
5340  |  PLG  |  DISEASES
23529  |  CLCF1  |  DISEASES
4023  |  LPL  |  DISEASES
9688  |  NUP93  |  DISEASES
9024  |  BRSK2  |  DISEASES
27235  |  COQ2  |  DISEASES
4118  |  MAL  |  DISEASES
358  |  AQP1  |  DISEASES
5319  |  PLA2G1B  |  DISEASES
404217  |  CTXN1  |  DISEASES
998  |  CDC42  |  DISEASES
22882  |  ZHX2  |  DISEASES
1191  |  CLU  |  DISEASES
3936  |  LCP1  |  DISEASES
8542  |  APOL1  |  DISEASES
9377  |  COX5A  |  DISEASES
5652  |  PRSS8  |  DISEASES
4018  |  LPA  |  DISEASES
5345  |  SERPINF2  |  DISEASES
64089  |  SNX16  |  DISEASES
2  |  A2M  |  DISEASES
9622  |  KLK4  |  DISEASES
6097  |  RORC  |  DISEASES
4094  |  MAF  |  DISEASES
6906  |  SERPINA7  |  DISEASES
2811  |  GP1BA  |  DISEASES
7490  |  WT1  |  DISEASES
8214  |  DGCR6  |  DISEASES
1287  |  COL4A5  |  DISEASES
55328  |  RNLS  |  DISEASES
51004  |  COQ6  |  DISEASES
342184  |  FMN1  |  DISEASES
2152  |  F3  |  DISEASES
23760  |  PITPNB  |  DISEASES
3320  |  HSP90AA1  |  DISEASES
8710  |  SERPINB7  |  DISEASES
64412  |  GZF1  |  DISEASES
7430  |  EZR  |  DISEASES
5329  |  PLAUR  |  DISEASES
3117  |  HLA-DQA1  |  DISEASES
1180  |  CLCN1  |  DISEASES
6609  |  SMPD1  |  DISEASES
7225  |  TRPC6  |  DISEASES
4306  |  NR3C2  |  DISEASES
6187  |  RPS2  |  DISEASES
866  |  SERPINA6  |  DISEASES
5498  |  PPOX  |  DISEASES
26762  |  HAVCR1  |  DISEASES
1861  |  TOR1A  |  DISEASES
9863  |  MAGI2  |  DISEASES
2335  |  FN1  |  DISEASES
79661  |  NEIL1  |  DISEASES
954  |  ENTPD2  |  DISEASES
4010  |  LMX1B  |  DISEASES
7328  |  UBE2H  |  DISEASES
1785  |  DNM2  |  DISEASES
5265  |  SERPINA1  |  DISEASES
3240  |  HP  |  DISEASES
6288  |  SAA1  |  DISEASES
2224  |  FDPS  |  DISEASES
50485  |  SMARCAL1  |  DISEASES
60  |  ACTB  |  DISEASES
23556  |  PIGN  |  DISEASES
5699  |  PSMB10  |  DISEASES
55243  |  KIRREL  |  DISEASES
23607  |  CD2AP  |  DISEASES
2013  |  EMP2  |  DISEASES
84063  |  KIRREL2  |  DISEASES
4311  |  MME  |  DISEASES
6721  |  SREBF2  |  DISEASES
10724  |  MGEA5  |  DISEASES
23038  |  WDTC1  |  DISEASES
183  |  AGT  |  DISEASES
22796  |  COG2  |  DISEASES
28514  |  DLL1  |  DISEASES
1378  |  CR1  |  DISEASES
3075  |  CFH  |  DISEASES
9213  |  XPR1  |  DISEASES
7827  |  NPHS2  |  DISEASES
462  |  SERPINC1  |  DISEASES
6446  |  SGK1  |  DISEASES
2214  |  FCGR3A  |  DISEASES
1490  |  CTGF  |  DISEASES
336  |  APOA2  |  DISEASES
632  |  BGLAP  |  DISEASES
284486  |  THEM5  |  DISEASES
57107  |  PDSS2  |  DISEASES
128344  |  PIFO  |  DISEASES
3744  |  KCNA10  |  DISEASES
50814  |  NSDHL  |  DISEASES
1369  |  CPN1  |  DISEASES
2334  |  AFF2  |  DISEASES
959  |  CD40LG  |  DISEASES
27329  |  ANGPTL3  |  DISEASES
163782  |  KANK4  |  DISEASES
953  |  ENTPD1  |  DISEASES
7422  |  VEGFA  |  DISEASES
2889  |  RAPGEF1  |  DISEASES
2981  |  GUCA2B  |  DISEASES
8879  |  SGPL1  |  DISEASES
23051  |  ZHX3  |  DISEASES
286204  |  CRB2  |  DISEASES
4702  |  NDUFA8  |  DISEASES
2934  |  GSN  |  DISEASES
27293  |  SMPDL3B  |  DISEASES
7099  |  TLR4  |  DISEASES
1896  |  EDA  |  DISEASES
3339  |  HSPG2  |  DISEASES
3118  |  HLA-DQA2  |  DISEASES
23352  |  UBR4  |  DISEASES
2155  |  F7  |  DISEASES
50943  |  FOXP3  |  DISEASES
23590  |  PDSS1  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
4878  |  NPPA  |  DISEASES
3105  |  HLA-A  |  DISEASES
1471  |  CST3  |  DISEASES
2262  |  GPC5  |  DISEASES
7056  |  THBD  |  DISEASES
8718  |  TNFRSF25  |  DISEASES
83715  |  ESPN  |  DISEASES
8029  |  CUBN  |  DISEASES
6520  |  SLC3A2  |  DISEASES
5420  |  PODXL  |  DISEASES
4868  |  NPHS1  |  DISEASES
375790  |  AGRN  |  DISEASES
1906  |  EDN1  |  DISEASES
79886  |  CAAP1  |  DISEASES
3440  |  IFNA2  |  DISEASES
3456  |  IFNB1  |  DISEASES
551  |  AVP  |  DISEASES
150084  |  IGSF5  |  DISEASES
6557  |  SLC12A1  |  DISEASES
3486  |  IGFBP3  |  DISEASES
55858  |  TMEM165  |  DISEASES
23189  |  KANK1  |  DISEASES
402682  |  UFSP1  |  DISEASES
64423  |  INF2  |  DISEASES
11346  |  SYNPO  |  DISEASES
3426  |  CFI  |  DISEASES
5530  |  PPP3CA  |  DISEASES
6696  |  SPP1  |  DISEASES
174  |  AFP  |  DISEASES
1285  |  COL4A3  |  DISEASES
1286  |  COL4A4  |  DISEASES
30011  |  SH3KBP1  |  DISEASES
340990  |  OTOG  |  DISEASES
11281  |  POU6F2  |  DISEASES
10525  |  HYOU1  |  DISEASES
7018  |  TF  |  DISEASES
221935  |  SDK1  |  DISEASES
4648  |  MYO7B  |  DISEASES
10213  |  PSMD14  |  DISEASES
154810  |  AMOTL1  |  DISEASES
84942  |  WDR73  |  DISEASES
11277  |  TREX1  |  DISEASES
23109  |  DDN  |  DISEASES
6457  |  SH3GL3  |  DISEASES
197  |  AHSG  |  DISEASES
5005  |  ORM2  |  DISEASES
25959  |  KANK2  |  DISEASES
5076  |  PAX2  |  DISEASES
960  |  CD44  |  DISEASES
7124  |  TNF  |  DISEASES
387  |  RHOA  |  DISEASES
6559  |  SLC12A3  |  DISEASES
2195  |  FAT1  |  DISEASES
221981  |  THSD7A  |  DISEASES
9351  |  SLC9A3R2  |  DISEASES
8867  |  SYNJ1  |  DISEASES
389549  |  FEZF1  |  DISEASES
3586  |  IL10  |  DISEASES
55230  |  USP40  |  DISEASES
721  |  C4B  |  DISEASES
629  |  CFB  |  DISEASES
2638  |  GC  |  DISEASES
373156  |  GSTK1  |  DISEASES
917  |  CD3G  |  DISEASES
1207  |  CLNS1A  |  DISEASES
84623  |  KIRREL3  |  DISEASES
4798  |  NFRKB  |  DISEASES
930  |  CD19  |  DISEASES
80790  |  CMIP  |  DISEASES
8972  |  MGAM  |  DISEASES
4157  |  MC1R  |  DISEASES
567  |  B2M  |  DISEASES
6139  |  RPL17  |  DISEASES
344  |  APOC2  |  DISEASES
Locus(Waiting for update.)
Disease ID 185
Disease nephrotic syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:131)
HP:0000093  |  Proteinuria  |  54
HP:0000112  |  Nephropathy  |  36
HP:0012578  |  Membranous glomerulonephritis  |  23
HP:0000083  |  Renal insufficiency  |  19
HP:0000969  |  Dropsy  |  18
HP:0000099  |  Glomerular nephritis  |  15
HP:0000096  |  Glomerulosclerosis  |  15
HP:0001919  |  Acute renal failure  |  14
HP:0000097  |  focal glomerulosclerosis  |  12
HP:0001907  |  Thromboembolic disease  |  10
HP:0000123  |  Nephritis  |  9
HP:0012579  |  Minimal change glomerulonephritis  |  8
HP:0002907  |  Microhematuria  |  8
HP:0011034  |  Amyloid disease  |  8
HP:0002664  |  Neoplasia  |  7
HP:0003774  |  End-stage renal failure  |  6
HP:0000790  |  Hematuria  |  6
HP:0000821  |  Underactive thyroid  |  5
HP:0003073  |  Hypoalbuminaemia  |  5
HP:0100820  |  Glomerulopathy  |  4
HP:0003077  |  Hyperlipidemia  |  4
HP:0012597  |  Heavy proteinuria  |  4
HP:0004936  |  Blood clot in vein  |  4
HP:0002586  |  Peritonitis  |  4
HP:0030731  |  Carcinoma  |  3
HP:0012050  |  Anasarca  |  3
HP:0002665  |  Lymphoma  |  3
HP:0002621  |  Atherosclerosis  |  3
HP:0001541  |  Ascites  |  3
HP:0001635  |  Congestive heart failure  |  3
HP:0002725  |  Systemic lupus erythematosus  |  3
HP:0000979  |  Purpura  |  3
HP:0000113  |  Polycystic kidney dysplasia  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0012592  |  Albuminuria  |  3
HP:0100724  |  Hypercoagulability  |  3
HP:0100723  |  Gastrointestinal stroma tumor  |  3
HP:0003124  |  Elevated serum cholesterol  |  2
HP:0012281  |  Chylous ascites  |  2
HP:0012398  |  Peripheral edema  |  2
HP:0000939  |  Osteoporosis  |  2
HP:0004420  |  Arterial thrombosis  |  2
HP:0001917  |  Renal amyloidosis  |  2
HP:0100522  |  Thymoma  |  2
HP:0011947  |  Respiratory infection  |  2
HP:0000822  |  Hypertension  |  2
HP:0002204  |  Pulmonary embolism  |  2
HP:0012531  |  Pain  |  2
HP:0002090  |  Pneumonia  |  2
HP:0001945  |  Fever  |  2
HP:0008064  |  Ichthyosis  |  2
HP:0000252  |  Small head circumference  |  2
HP:0002721  |  Immunodeficiency  |  2
HP:0100280  |  Morbus Crohn  |  2
HP:0100279  |  Ulcerative colitis  |  2
HP:0000855  |  Insulin resistance  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0001941  |  acidemia  |  1
HP:0000846  |  Hypoadrenalism  |  1
HP:0002110  |  Bronchiectasis  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0100003  |  Peritoneal mesothelioma  |  1
HP:0012594  |  High urine albumin levels  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0100001  |  Malignant mesothelioma  |  1
HP:0001872  |  Platelet abnormalities  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0002576  |  Intussusception  |  1
HP:0012539  |  Non-Hodgkin lymphoma  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0010524  |  Agnosia  |  1
HP:0001999  |  Facial dysmorphism  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0002099  |  Asthma  |  1
HP:0002153  |  Elevated serum potassium levels  |  1
HP:0001920  |  Renal artery stenosis  |  1
HP:0003075  |  Hypoproteinemia  |  1
HP:0002155  |  Increased triglycerides  |  1
HP:0000230  |  Inflamed gums  |  1
HP:0004746  |  Dense deposit disease  |  1
HP:0001947  |  Renal tubular acidosis  |  1
HP:0000832  |  Primary hypothyroidism  |  1
HP:0011459  |  Esophageal carcinoma  |  1
HP:0012234  |  Agranulocytosis  |  1
HP:0003259  |  Increased serum creatinine  |  1
HP:0001967  |  Diffuse mesangial sclerosis  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0100658  |  Bacterial infection of skin  |  1
HP:0030760  |  Kidney fibrosis  |  1
HP:0001263  |  Developmental retardation  |  1
HP:0100806  |  Sepsis  |  1
HP:0004713  |  Reversible renal failure  |  1
HP:0008677  |  Congenital nephrosis  |  1
HP:0001004  |  Lymphatic obstruction  |  1
HP:0005576  |  Renal interstitial fibrosis  |  1
HP:0007430  |  Generalized edema  |  1
HP:0008682  |  Renal tubular necrosis  |  1
HP:0002625  |  Blood clot in a deep vein  |  1
HP:0100817  |  Renovascular hypertension  |  1
HP:0011967  |  Hypocupremia  |  1
HP:0030843  |  Cardiac amyloidosis  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0100002  |  Pleural mesothelioma  |  1
HP:0012226  |  Ovarian teratoma  |  1
HP:0000010  |  Frequent urinary tract infections  |  1
HP:0012190  |  T cell lymphoma  |  1
HP:0005521  |  Disseminated intravascular coagulation  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
HP:0002149  |  Hyperuricemia  |  1
HP:0004836  |  Acute promyelocytic leukemia  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0100646  |  Thyroiditis  |  1
HP:0001250  |  Seizures  |  1
HP:0001901  |  Abnormally shaped erythrocytes  |  1
HP:0004313  |  Decreased immunoglobulin level  |  1
HP:0000133  |  Mixed gonadal dysgenesis  |  1
HP:0030078  |  Lung adenocarcinoma  |  1
HP:0003006  |  Neuroblastoma  |  1
HP:0002013  |  Emesis  |  1
HP:0001639  |  Hypertrophic cardiomyopathy  |  1
HP:0003764  |  Naevus  |  1
HP:0011510  |  Drusen  |  1
HP:0002315  |  Headaches  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0001903  |  Anemia  |  1
HP:0001892  |  Bleeding diathesis  |  1
Disease ID 185
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:69)
C0033687  |  proteinuria  |  54
C0017665  |  membranous nephropathy  |  21
C0035078  |  renal failure  |  16
C0017658  |  glomerulonephritis  |  15
C0040053  |  thrombosis  |  14
C0333497  |  segmental glomerulosclerosis  |  13
C0009450  |  infection  |  13
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
C1839611  |  n syndrome  |  4
C0020473  |  hyperlipidemia  |  4
C0031154  |  peritonitis  |  4
C0149985  |  secondary syphilis  |  4
C0042487  |  venous thrombosis  |  4
C1398810  |  glomerulopathy  |  4
C0242339  |  dyslipidemia  |  3
C0019163  |  hepatitis b  |  3
C0004153  |  atherosclerosis  |  3
C0022679  |  cystic kidney  |  3
C0024141  |  systemic lupus erythematosus  |  3
C0155776  |  renal vein thrombosis  |  3
C0007785  |  cerebral infarction  |  3
C0398623  |  hypercoagulability  |  3
C0276687  |  disseminated cryptococcosis  |  2
C0021079  |  immunosuppression  |  2
C0268382  |  renal amyloidosis  |  2
C0034065  |  pulmonary embolism  |  2
C0013604  |  oedema  |  2
C0151942  |  arterial thrombosis  |  2
C0268731  |  glomerular disease  |  2
C0020443  |  hypercholesterolemia  |  2
C0022661  |  chronic renal failure  |  2
C0013922  |  embolism  |  2
C0020488  |  sodium retention  |  2
C0020538  |  hypertension  |  2
C0010346  |  crohn's disease  |  2
C0854142  |  aortic thrombosis  |  1
C0032461  |  polycythaemia  |  1
C0240035  |  interstitial fibrosis  |  1
C0004623  |  bacterial infection  |  1
C0042029  |  urinary tract infection  |  1
C0856169  |  endothelial dysfunction  |  1
C0730345  |  microalbuminuria  |  1
C0020545  |  renovascular hypertension  |  1
C0022661  |  end-stage renal failure  |  1
C0008732  |  chylous ascites  |  1
C0007642  |  cellulitis  |  1
C0021933  |  intussusception  |  1
C0242379  |  lung cancer  |  1
C0010068  |  coronary heart disease  |  1
C0008732  |  chyloperitoneum  |  1
C0546817  |  fluid overload  |  1
C0005779  |  coagulopathy  |  1
C0000737  |  abdominal pain  |  1
C0086438  |  hypogammaglobulinemia  |  1
C0035309  |  retinopathy  |  1
C0338573  |  cerebral venous sinus thrombosis  |  1
C0002871  |  anemia  |  1
C0376545  |  hematological malignancies  |  1
C0027051  |  myocardial infarction  |  1
C0020639  |  hypoproteinemia  |  1
C0221239  |  rapidly progressive glomerulonephritis  |  1
C0032587  |  polyradiculoneuropathy  |  1
C1527405  |  erythrocytosis  |  1
Manually Genotype(Total Text Mining 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
rs1045642239946855243ABCB1umls:C0027726BeFreeOur data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk factors of increased susceptibility, earlier onset of NS, and steroid resistance.0.0034527992013ABCB1787509329AT,G
rs16946160214419312262GPC5umls:C0027726GAD[Common variation in GPC5 is associated with acquired nephrotic syndrome.]0.2426384742011GPC51391551559GA
rs16946160214419312262GPC5umls:C0027726GWASCATCommon variation in GPC5 is associated with acquired nephrotic syndrome.0.2426384742011GPC51391551559GA
rs200042397167527997827NPHS2umls:C0027726BeFreeA 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.0.3006546622006NPHS2;AXDND11179552616TC
rs200042397235150517827NPHS2umls:C0027726BeFreeOf 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.0.3006546622013NPHS2;AXDND11179552616TC
rs200042397240721537827NPHS2umls:C0027726BeFreeR229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.0.3006546622013NPHS2;AXDND11179552616TC
rs2032582239946855243ABCB1umls:C0027726BeFreeOur data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk factors of increased susceptibility, earlier onset of NS, and steroid resistance.0.0034527992013ABCB1787531302AT,C
rs3338818343955595CCND1umls:C0027726BeFreeWe 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).0.0002714422008NR3C15143317730AT
rs3338918343955595CCND1umls:C0027726BeFreeWe 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).0.0002714422008NR3C15143320934CT
rs3814995242314874868NPHS1umls:C0027726BeFreeWe report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L).0.1161488842014NPHS1;KIRREL21935851310CG,T
rs3814995242314877827NPHS2umls:C0027726BeFreeWe report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L).0.3006546622014NPHS1;KIRREL21935851310CG,T
rs386833892201728504868NPHS1umls:C0027726BeFreeSurprisingly, 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.0.1161488842010NPHS11935845538AC
rs437168255997334868NPHS1umls:C0027726BeFreeOur findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.0.1161488842014NPHS11935843517GA,C
rs437168255997337827NPHS2umls:C0027726BeFreeOur findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.0.3006546622014NPHS11935843517GA,C
rs61747728255997334868NPHS1umls:C0027726BeFreeOur findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.0.1161488842014NPHS21179557079CT
rs61747728255997337827NPHS2umls:C0027726BeFreeOur findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.0.3006546622014NPHS21179557079CT
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
1392203813rs16946160GArs16946160214419313.00E-07NA1.39[1.22-1.57] 195 Japanese ancestry cases; 1,546 Japanese ancestry controlsJapanese(1741)ALL(1741)ASN(1741)ALL(1741)Nephrotic syndrome (acquired)HPOID:0000100Nephrotic syndromeDOID:1184nephrotic syndromeD009404Nephrotic SyndromeNANANephrosisrs16946160-AResearch Support, Non-U.S. Gov'tGGPC5
2046779235rs11086243CTrs11086243214419313.00E-06NA1.37[1.20-1.57] 195 Japanese ancestry cases; 1,546 Japanese ancestry controlsJapanese(1741)ALL(1741)ASN(1741)ALL(1741)Nephrotic syndrome (acquired)HPOID:0000100Nephrotic syndromeDOID:1184nephrotic syndromeD009404Nephrotic SyndromeNANANephrosisrs11086243-TResearch Support, Non-U.S. Gov'tTNA
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:31)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0027726aminocaproic acidD01511960-32-2nephrotic syndromeMESH:D009404therapeutic11304663
C0027726ampicillinD00066769-53-4nephrotic syndromeMESH:D009404marker/mechanism1630702
C0027726benazeprilC04494686541-75-5nephrotic syndromeMESH:D009404therapeutic10515446
C0027726chlorambucilD002699305-03-3nephrotic syndromeMESH:D009404marker/mechanism2797556
C0027726chlorambucilD002699305-03-3nephrotic syndromeMESH:D009404therapeutic17211287
C0027726cyclophosphamideD00352050-18-0nephrotic syndromeMESH:D009404marker/mechanism2797556
C0027726cyclophosphamideD00352050-18-0nephrotic syndromeMESH:D009404therapeutic15334202
C0027726cyclosporineD01657259865-13-3nephrotic syndromeMESH:D009404marker/mechanism17019561
C0027726cyclosporineD01657259865-13-3nephrotic syndromeMESH:D009404therapeutic11598405
C0027726diclofenacD00400815307-86-5nephrotic syndromeMESH:D009404marker/mechanism10444806
C0027726ethosuximideD00501377-67-8nephrotic syndromeMESH:D009404marker/mechanism623072
C0027726fenoprofenD00527931879-05-7nephrotic syndromeMESH:D009404marker/mechanism10052505
C0027726foscarnetD0172454428-95-9nephrotic syndromeMESH:D009404marker/mechanism10231404
C0027726griseofulvinD006118126-07-8nephrotic syndromeMESH:D009404marker/mechanism7577414
C0027726indomethacinD00721353-86-1nephrotic syndromeMESH:D009404therapeutic7172499
C0027726mephenytoinD0086171950/12/4nephrotic syndromeMESH:D009404marker/mechanism1246508
C0027726nabumetoneC03560542924-53-8nephrotic syndromeMESH:D009404marker/mechanism8570441
C0027726pamidronateC01924840391-99-9nephrotic syndromeMESH:D009404marker/mechanism11979358
C0027726peginterferon alfa-2bC417083-nephrotic syndromeMESH:D009404marker/mechanism17987400
C0027726phenytoinD01067257-41-0nephrotic syndromeMESH:D009404marker/mechanism2496325
C0027726piroxicamD01089436322-90-4nephrotic syndromeMESH:D009404marker/mechanism8298379
C0027726propranololD011433525-66-6nephrotic syndromeMESH:D009404marker/mechanism1268509
C0027726ribavirinD01225436791-04-5nephrotic syndromeMESH:D009404marker/mechanism12080234
C0027726rifampinD01229313292-46-1nephrotic syndromeMESH:D009404marker/mechanism2782777
C0027726sirolimusD02012353123-88-9nephrotic syndromeMESH:D009404marker/mechanism16504675
C0027726sulindacD01346738194-50-2nephrotic syndromeMESH:D009404marker/mechanism3208459
C0027726thalidomideD01379250-35-1nephrotic syndromeMESH:D009404therapeutic15182131
C0027726tioproninD0086251953/2/2nephrotic syndromeMESH:D009404marker/mechanism2250412
C0027726tolmetinD01404626171-23-3nephrotic syndromeMESH:D009404marker/mechanism2773972
C0027726trimethadioneD014293127-48-0nephrotic syndromeMESH:D009404marker/mechanism4631174
C0027726vincristineD014750-nephrotic syndromeMESH:D009404therapeutic9655358
FDA approved drug and dosage information(Total Drugs:2)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D009404rapamunesirolimus1MG/MLSOLUTION;ORALPrescriptionNoneYesYes
MESH:D009404rapamunesirolimus1MGTABLET;ORALPrescriptionABYesNo
FDA labeling changes(Total Drugs:2)
DiseaseID Pediatric_Labeling_Date Trade_Name Generic_Name_or_Proper_Name Indications Studied Label Changes Summary Product Labeling BPCA(B) PREA(P) BPCA(B) and PREA(P) Pediatric Rule (R) Sponsor Pediatric Exclusivity Granted Date NNPS
MESH:D00940411/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'
MESH:D00940411/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'