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Genes (22)
Species: human : 22 | |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | Focal segmental glomerulosclerosis | Human | CD2AP | 23607 | CD2-associated protein | Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation two patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease | Human | NPHS2 | 7827 | nephrosis 2, idiopathic, steroid-resistant (podocin) | Mutated in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele Post kidney transplantation recurrence of podocin in patients carrying homozygous and/or heterozygous posttransplantation recurrence of FSGS in patients originally carrying homozygous and/or heterozygous focal segmental glomerulosclerosis mutations no causative NPHS2 mutations were identified in Japanese pediatric focal segmental glomerulosclerosis patients with or without post-transplant recurrence serum and plasma factors from focal segmental glomerulosclerosis patients may directly affect nephrin and podocin in human podocytes data do not support R229Q as a disease-causing mutation for steroid-resistant focal segmental glomerulosclerosis | Human | WT1 | 7490 | Wilms tumor 1 | Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis is associated with WT1 mutation | Human | TRPC6 | 7225 | transient receptor potential cation channel, subfamily C, member 6 | Mutation on chromosome 11 may be involved in focal sclerosing glomerulonephritis a family with familial focal segmental glomerulosclerosis carries a missense mutation in TRPC6; the proline-to-glutamine substitution enhances TRPC6-mediated calcium signals in response to agonists & appears to alter intracellular distribution of TRPC6 | Human | TNF | 7124 | tumor necrosis factor | Our results indicate that TGF-beta(1) gene Arg(25)-->Pro, TNF alpha gene G-308A and IL-6 gene G-174C polymorphisms are not risk factors or markers of progression in focal segmental glomerulosclerosis | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | a signal transduction cascade of the TGF-beta/Smad signaling pathway, which is activated in the GEC, appears to be involved in the development of focal segmental glomerulosclerosis | Human | NPHS1 | 4868 | nephrosis 1, congenital, Finnish type (nephrin) | serum and plasma factors from focal segmental glomerulosclerosis patients may directly affect nephrin and podocin in human podocytes | Human | MYH9 | 4627 | myosin, heavy chain 9, non-muscle | Genetic variation at the MYH9 locus substantially explains the increased burden of focal segmental glomerulosclerosis and hypertensive end-stage kidney diseases | Human | SMAD3 | 4088 | SMAD family member 3 | a signal transduction cascade of the TGF-beta/Smad signaling pathway, which is activated in the GEC, appears to be involved in the development of focal segmental glomerulosclerosis | Human | SMAD2 | 4087 | SMAD family member 2 | a signal transduction cascade of the TGF-beta/Smad signaling pathway, which is activated in the GEC, appears to be involved in the development of focal segmental glomerulosclerosis | Human | ITGB1 | 3688 | integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) | decreased podocyte expression of alpha3beta1 integrins is closely related with podocyte depletion, glomerular sclerosis, and daily protein loss in patients with primary focal glomerulosclerosis | Human | ITGA3 | 3675 | integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) | decreased podocyte expression of alpha3beta1 integrins is closely related with podocyte depletion, glomerular sclerosis, and daily protein loss in patients with primary focal glomerulosclerosis | Human | IL10 | 3586 | interleukin 10 | In comparison with controls, the frequency of -1,082*G alleles was lower in IgA nephropathy and the frequencies of -592*C and -819*C were lower in focal segmental glomerulosclerosis, respectively Our results suggest that IL-10 gene G-1082A polymorphism is an important marker of progression in patients with IgA nephropathy and focal segmental glomerulosclerosis | Human | SLC37A4 | 2542 | solute carrier family 37 (glucose-6-phosphate transporter), member 4 | Focal segmental glomerulosclerosis | Human | ACE | 1636 | angiotensin I converting enzyme | Angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is a predictor of clinical course in common multi-factorial diseases including focal segmental glomerulosclerosis in patients with nephrotic syndrome due to biopsy proven focal segmental glomerulosclerosis, ACE-ID/DD genotypes were more frequently found in patients with fast progression of renal disease | Human | COL4A4 | 1286 | collagen, type IV, alpha 4 | our data show many patients with collagen IV mutations may develop focal & segmental glomerulosclerosis, on top of thin basement membrane nephropathy & microscopic hematuria, which often progresses to chronic renal failure or end-stage renal disease | Human | COL4A3 | 1285 | collagen, type IV, alpha 3 (Goodpasture antigen) | our data show many patients with collagen IV mutations may develop focal & segmental glomerulosclerosis, on top of thin basement membrane nephropathy & microscopic hematuria, which often progresses to chronic renal failure or end-stage renal disease COL4A3 founder mutations were identified in large Greek-Cypriot families with familial hematuria and thin basement membrane nephroapthy and focal segmental glomerulosclerosis dating to 18th century | Human | CLCN5 | 1184 | chloride channel, voltage-sensitive 5 | Focal glomerulosclerosis (in 33%) | Human | AGTR1 | 185 | angiotensin II receptor, type 1 | in patients with nephrotic syndrome due to biopsy proven focal segmental glomerulosclerosis, the AT1R-A1166C polymorphism was not associated with any of the parameters studied | Human | AGT | 183 | angiotensinogen (serpin peptidase inhibitor, clade A, member 8) | in patients with nephrotic syndrome due to biopsy proven focal segmental glomerulosclerosis, AGT-M235T polymorphism was associated with the severity of arterial hypertension | Human | ACTN4 | 81 | actinin, alpha 4 | ACTN4 mutations accounts for about 3.5% of familial focal glomerulosclerosis Crystal structure of the actin-binding domain of alpha-actininin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis A novel ACTN4 mutation, p.Ser262Phe, was detected in the patients, and their father was found to have a germline mosaicism for the mutation in these patients with familial focal segmental glomerulosclerosis |
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