Human | SLC22A12 | 116085 | solute carrier family 22 (organic anion/urate transporter), member 12 | Title:A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.|Association:Y|Conclusion:SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese. |
Human | ACE2 | 59272 | angiotensin I converting enzyme 2 | kidney disease of patients with type 2 diabetes is associated with a reduction in ACE2 gene |
Human | AHI1 | 54806 | Abelson helper integration site 1 | Joubert syndrome patients with AHI1 mutations are at risk of developing both retinal dystrophy and progressive kidney disease |
Human | AOC3 | 8639 | amine oxidase, copper containing 3 | Serum levels of VAP-1 are associated with the severity of kidney damage or stages of kidney disease |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | some genetic studies have shown an association between some Vitamin D receptor polymorphisms and calcium kidney stone disease Title:Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis.|Association:Y|Conclusion:Our results suggest that the effects of VDR (Fok-I) and CTR gene polymorphism contribute to the understanding of the pathogenesis of urinary calculi. It is also suggestive of a potential candidate gene in the search for genetic causes of paediatric calcium oxalate nephrolithiasis. |
Human | VCAM1 | 7412 | vascular cell adhesion molecule 1 | circulating levels of adhesion molecules in correlated positively with the stage of kidney disease and with C-reactive protein |
Human | UMOD | 7369 | uromodulin | We identified a new candidate uromodulin-associated kidney disease locus on chromosome 1q41 the autosomal-dominant gene mutations responsible for UMOD-associated kidney disease cause a profound reduction of THP excretion |
Human | HNF1A | 6927 | HNF1 homeobox A | Title:Mutations in hepatocyte nuclear factor-1{beta} and their related phenotypes.|Association:Not Found|Conclusion:We report the largest series to date of HNF-1beta mutations and confirm HNF-1beta mutations as an important cause of renal disease. Despite the original description of HNF-1beta as a MODY gene, a personal/family history of diabetes is often absent and the most common clinical manifestation is renal cysts. Molecular genetic testing for HNF-1beta mutations should be considered in patients with unexplained renal cysts (including GCKD), especially when associated with diabetes, early-onset gout, or uterine abnormalities. |
Human | SDC2 | 6383 | syndecan 2 | There are pronounced tubulointerstitial HSPG alterations in primary kidney disease, which may affect the inflammatory response |
Human | PTK2 | 5747 | protein tyrosine kinase 2 | In kidney disease, increased parathyroid hyperplasia cell growth driven by enhanced EGFR could be further aggravated through elevations in integrin beta1 and FAK expression |
Human | PRKCB | 5579 | protein kinase C, beta | study indicates that PRKCB1 is a predictor for worsening of kidney disease in Japanese subjects with type 2 diabetes |
Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Title:Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction|Association:Not Found|Conclusion:Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction. |
Human | NPPB | 4879 | natriuretic peptide B | In chronic heart failure (CHF) patients with and without kidney disease, NT-proBNP provides independent prognostic information |
Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:Endothelial nitric oxide synthase gene polymorphism in dialysis patients.|Association:Not Found|Conclusion:No significant differences were seen between the control group and the dialysis patients, or between the HD and the PD patients. Title:Endothelial nitric oxide synthase gene polymorphism in the Indian and Mestizo populations of Mexico.|Association:Not Found|Conclusion:We conclude that the low frequency of the eNOS Glu298Asp polymorphism in Indian and Mestizo populations of Mexico is related to the Asian origin of Amerindian groups. |
Human | ICAM1 | 3383 | intercellular adhesion molecule 1 | circulating levels of adhesion molecules in correlated positively with the stage of kidney disease and with C-reactive protein |
Human | CXCR3 | 2833 | chemokine (C-X-C motif) receptor 3 | Activation of the CXCR3 receptor in proximal tubular cells might disturb natriuresis during inflammatory and ischemic kidney disease via early growth response gene-1-mediated imbalance of reactive oxygen species |
Human | ACE | 1636 | angiotensin I converting enzyme | Title:Renin-angiotensin system polymorphisms and renal scarring|Association:Not Found|Conclusion:We conclude that genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR. |
Human | CASR | 846 | calcium-sensing receptor | Title:Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients.|Association:Not Found|Conclusion:In conclusion, CASR gene could be a component of the complex genetic background regulating Ca excretion. Arg990Gly polymorphism could facilitate activation of CaSR and increase Ca excretion and susceptibility to idiopathic hypercalciuria. |
Human | CALCR | 799 | calcitonin receptor | Title:Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis.|Association:Y|Conclusion:Our results suggest that the effects of VDR (Fok-I) and CTR gene polymorphism contribute to the understanding of the pathogenesis of urinary calculi. It is also suggestive of a potential candidate gene in the search for genetic causes of paediatric calcium oxalate nephrolithiasis. |
Human | BDKRB1 | 623 | bradykinin receptor B1 | The role of B1 receptors on renal fibrosis and the use of a nonpeptide B1R antagonist on the progression of obstructive kidney disease is reported |
Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | Our study demonstrates that the novel BALP B1x isoform is occasionally found to be present in children with kidney disease but to a lesser degree in comparison with adults with chronic kidney disease on dialysis |
Human | AGTR2 | 186 | angiotensin II receptor, type 2 | Title:Renin-angiotensin system polymorphisms and renal scarring|Association:Not Found|Conclusion:We conclude that genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR. |
Human | AGTR1 | 185 | angiotensin II receptor, type 1 | Title:Renin-angiotensin system polymorphisms and renal scarring|Association:Not Found|Conclusion:We conclude that genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR. |
Human | AGT | 183 | angiotensinogen (serpin peptidase inhibitor, clade A, member 8) | Title:Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction|Association:Not Found|Conclusion:Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction. Title:Renin-angiotensin system polymorphisms and renal scarring|Association:Not Found|Conclusion:We conclude that genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR. |