Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | CDC73 | 79577 | cell division cycle 73 | Polycystic kidney disease |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | NPHP3 | 27031 | nephronophthisis 3 (adolescent) | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | Adult onset polycystic kidney (50%) |
Human | MKKS | 8195 | McKusick-Kaufman syndrome | |
Human | TSC2 | 7249 | tuberous sclerosis 2 | Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the TSC2 gene on chromosome 16p13.3 |
Human | HNF1B | 6928 | HNF1 homeobox B | Bilateral massively enlarged polycystic kidneys mimicking autosomal dominant polycystic kidney disease in young adults may be related to TCF2/HNF-1beta mutation |
Human | PTGER2 | 5732 | prostaglandin E receptor 2 (subtype EP2), 53kDa | Role of EP2 receptor in mediating the PGE2 effect on stimulating cyst formation may have direct pharmacological implications for the treatment of polycystic kidney disease |
Human | PKHD1 | 5314 | polycystic kidney and hepatic disease 1 (autosomal recessive) | PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Title:Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).|Association:Not Found|Conclusion:Gross PKHD1 deletions account for a detectable proportion of ARPKD cases. Screening for major genomic PKHD1 rearrangements will further improve mutation analysis in ARPKD. |
Human | PKD2 | 5311 | polycystic kidney disease 2 (autosomal dominant) | Title:Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.|Association:Not Found|Conclusion:The study identified two novel mutations and one recurrent mutation of the PKD2 gene in 20 Taiwanese patients. The characteristics of the mutations in this study resemble those reported among Western populations. functions as a calcium-activated intracellular calcium release channel in vivo, and polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism |
Human | PKD1 | 5310 | polycystic kidney disease 1 (autosomal dominant) | Title:Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.|Association:Y|Conclusion:Our findings indicate that many different PKD1 mutations are likely to be responsible for ADPKD in the Korean population, as in the Western population. mTOR is regulatd by polycystin-1 in polycystic kidney disease [review] Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the PKD1 gene on chromosome 16p13.3 |
Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:[Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]|Association:Not Found|Conclusion:AT1 1166CC and ecNOS 298Asp/Asp are associated with earlier A2 and A6 whereas AGT 235TT induce twofold increase in GFRd, suggesting that RAS and ecNOS are involved in ADPKD progression. Title:Modifier effect of ENOS in autosomal dominant polycystic kidney disease.|Association:Y|Conclusion:In conclusion, the frequent Glu298Asp polymorphism of ENOS is associated with a 5 year lower mean age at ESRD in this subset of ADPKD males. This effect could be due to a decreased NOS activity and a partial cleavage of eNOS, leading to a further decrease in the vascular production of NO. |
Human | NEK1 | 4750 | NIMA-related kinase 1 | Mapping studies of NEK1 regulatory domain indicate interaction with most of the proteins known to take part in etiology of polycystic kidney disease, in double-strand DNA break repair at the G2/M cell-cycle transition phase, or in neural cell development |
Human | MYC | 4609 | v-myc avian myelocytomatosis viral oncogene homolog | c-myc-induced apoptosis in polycystic kidney disease is independent of FasL/Fas interaction |
Human | MTOR | 2475 | mechanistic target of rapamycin (serine/threonine kinase) | mTOR is regulatd by polycystin-1 in polycystic kidney disease [review] |
Human | EYA1 | 2138 | eyes absent homolog 1 (Drosophila) | |
Human | ETFDH | 2110 | electron-transferring-flavoprotein dehydrogenase | |
Human | ETFB | 2109 | electron-transfer-flavoprotein, beta polypeptide | |
Human | ETFA | 2108 | electron-transfer-flavoprotein, alpha polypeptide | |
Human | ERBB2 | 2064 | v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 | HER2(neu/ErbB2) is an effector of an apical EGF receptor complex mispolarization and its inhibition should be considered a candidate for clinical therapy of polycystic kidney disease |
Human | EGFR | 1956 | epidermal growth factor receptor | Title:Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease.|Association:Y|Conclusion:These findings suggest an association between the EGFR microsatellite polymorphism and ADPKD. However, it is difficult to establish which alleles are protective and which harmful. A larger, multicenter study may help clarify these results and is also required to replicate our preliminary finding of an association between ADPKD and the EGFR polymorphism. |
Human | ACE | 1636 | angiotensin I converting enzyme | Title:|Association:Not Found|Conclusion:Not Found Title:|Association:Y|Conclusion:Not Found Title:|Association:Y|Conclusion:Not Found |
Human | CPT2 | 1376 | carnitine palmitoyltransferase 2 | Enlarged polycystic kidneys (detectable prenatally) |
Human | AGTR1 | 185 | angiotensin II receptor, type 1 | Title:[Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]|Association:Not Found|Conclusion:AT1 1166CC and ecNOS 298Asp/Asp are associated with earlier A2 and A6 whereas AGT 235TT induce twofold increase in GFRd, suggesting that RAS and ecNOS are involved in ADPKD progression. |