Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | NLRP3 | 114548 | NLR family, pyrin domain containing 3 | |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | |
Human | XYLT2 | 64132 | xylosyltransferase II | |
Human | XYLT1 | 64131 | xylosyltransferase I | |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | |
Human | INVS | 27130 | inversin | analysis of a homozygous mutation in exon 13 of inversin (INVS) (C2719T, R907X) in a patient with retinitis pigmentosa and renal failure [case report] |
Human | NPHP3 | 27031 | nephronophthisis 3 (adolescent) | Median onset of renal failure 19 years |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | HPS5 | 11234 | Hermansky-Pudlak syndrome 5 | |
Human | ADAMTS13 | 11093 | ADAM metallopeptidase with thrombospondin type 1 motif, 13 | Severe secondary ADAMTS13 deficiency is associated with sepsis-induced disseminated intravascular coagulation and may contribute to the development of renal failure |
Human | UTS2 | 10911 | urotensin 2 | UII may also play a role in renal disease, being elevated in the circulation or urine of patients with renal failure and in experimental models of cardiovascular disease such as the spontaneously hypertensive rat |
Human | CLDN16 | 10686 | claudin 16 | |
Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | Hypoadiponectinemia is a novel putative cardiovascular risk factor in patients with mild and moderate renal failure Decrease in expression may be the result of a negative feedback regulation, as a result of elevated levels of circulating adiponectin caused by renal failure |
Human | ITGA8 | 8516 | integrin, alpha 8 | A polymorphism of the ITGA8 promoter modifies the progression of renal failure in ADPKD |
Human | ALMS1 | 7840 | Alstrom syndrome 1 | |
Human | BSND | 7809 | Bartter syndrome, infantile, with sensorineural deafness (Barttin) | |
Human | WT1 | 7490 | Wilms tumor 1 | Chronic/endstage renal failure Death usually due to renal failure by average age 3 |
Human | UMOD | 7369 | uromodulin | |
Human | TNF | 7124 | tumor necrosis factor | Diabetic nephropathy patients, molecular variants of TNF are more frequent than non-diabetic patients with renal failure |
Human | SREBF2 | 6721 | sterol regulatory element binding transcription factor 2 | SREBP transcription factors play an important role in disturbed lipid metabolism in renal failure |
Human | SCNN1G | 6340 | sodium channel, non-voltage-gated 1, gamma subunit | |