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Genes (43)
Species: human : 43 | |
Human | MUC16 | 94025 | mucin 16, cell surface associated | With this in mind we can hypothesize that the development of ascites was the primary cause for the elevation of CA-125 in SLE patients with nephrotic syndrome rather than the nephrotic syndrome itself | Human | LMNB2 | 84823 | lamin B2 | | Human | PDSS2 | 57107 | prenyl (decaprenyl) diphosphate synthase, subunit 2 | Nephrotic syndrome (described in one family) | Human | ADCK3 | 56997 | aarF domain containing kinase 3 | Nephrotic syndrome (described in one family) | Human | APTX | 54840 | aprataxin | Nephrotic syndrome (described in one family) | Human | PLCE1 | 51196 | phospholipase C, epsilon 1 | Nephrotic syndrome, progressing to endstage kidney disease | Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | | Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | Nephrotic syndrome (described in one family) | Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | | Human | PDSS1 | 23590 | prenyl (decaprenyl) diphosphate synthase, subunit 1 | Nephrotic syndrome (described in one family) | Human | NPHS2 | 7827 | nephrosis 2, idiopathic, steroid-resistant (podocin) | Dramatic decrease of podocin expression was found in children with nephrotic syndrome re-evaluated cclinical fils and echocardiography of 12 patients with NPHS2 mutation and sporadic nephrotic syndrome and failed to confirm association with cardiac defects Clinical spectrum and fine mechanisms of NPHS2 (Podocin) mutations in nephrotic syndrome [review] Mutations interact with nephrin to produce either nephrotic syndrome or focal glomerosclerosis, depending on alleles nephrotic syndrome in children with truncating or homozygous R138Q mutations manifests predominantly before 6 yr of life, and the onset of disease is significantly earlier than for any other podocin mutations | Human | WT1 | 7490 | Wilms tumor 1 | Title:Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.|Association:Not Found|Conclusion:According to the data acquired in this study, patients presenting with a female phenotype and SRNS and male patients presenting with genital abnormalities should especially be screened to take advantage of the important genetic information on potential Wilms' tumor risk and differential therapy. This will also help to provide more data on the phenotype/genotype correlation in this patient population. | Human | TNF | 7124 | tumor necrosis factor | no association with IL-1beta and TNF-alpha in childhood nephrotic syndrome | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | Localization of TGF-beta(1) mRNA and protein within tubular epithelial cells, with its increased urinary excretion in nephrotic syndrome, suggest the activation of these cells by filtered protein towards increased TGF-beta(1) production | Human | TFPI | 7035 | tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) | An inadequate tissue factor pathway inhibitor (TFPI) concentration as a result of elevated tissue factor (TF):tissue factor pathway inhibitor (TFPI) ratio characterizes patients with clinical manifestations of nephrotic syndrome and mild proteinuria | Human | STAT6 | 6778 | signal transducer and activator of transcription 6, interleukin-4 induced | Title:Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.|Association:Not Found|Conclusion:The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS. | Human | PMM2 | 5373 | phosphomannomutase 2 | | Human | NPPC | 4880 | natriuretic peptide C | findings demonstrate that CNP metabolism is altered in patients with nephrotic syndrome and support the hypothesis that activation of renal CNP can be partially offset by a low-protein diet | Human | NPHS1 | 4868 | nephrosis 1, congenital, Finnish type (nephrin) | Mutations interact with NPHS2 protein to produce either nephrotic syndrome or focal glomerosclerosis, depending on alleles an alteration in nephrin expression is not a feature of acquired forms of nephrotic syndrome in childhood Mutated in nephrotic syndrome in an 11-year old boy Abnormal distribution of nephrin, podocin, and alpha-actinin were found in children with nephrotic syndrome | Human | MEFV | 4210 | Mediterranean fever | | Human | LYZ | 4069 | lysozyme | | Human | LMX1B | 4010 | LIM homeobox transcription factor 1, beta | | Human | LEP | 3952 | leptin | in nephrotic syndrome children leptin urinary excretion increases but its level is unchanged in serum and serum leptin level is correlated with lipid parameters | Human | LAMB2 | 3913 | laminin, beta 2 (laminin S) | Neonatal onset of nephrotic syndrome | Human | IL13 | 3596 | interleukin 13 | Title:Interleukin-13 genetic polymorphisms in Singapore Chinese children correlate with long-term outcome of minimal-change disease.|Association:Y|Conclusion:These results suggest that genetic polymorphisms in the 3'UTR of the IL-13 gene correlate with long-term outcome of MCNS, rather than disease susceptibility, in Singapore Chinese children. |
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