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Genes (16)
Species:
human : 16 | |
| Human | NLRP3 | 114548 | NLR family, pyrin domain containing 3 | Effect of CIAS1 mutations in promoting necrosis-like cell death demonstrates that CIAS1 mosaicism plays an important role in mutation-negative Cias1-associated periodic syndrome | | Human | SUZ12 | 23512 | SUZ12 polycomb repressive complex 2 subunit | JJAZ1 gene recombination may have a role in mosaicism in neurofibromatosis type 1 | | Human | WRN | 7486 | Werner syndrome, RecQ helicase-like | Variegated translocation mosaicism in cultured fibroblasts | | Human | TWIST1 | 7291 | twist basic helix-loop-helix transcription factor 1 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis | | Human | TSC2 | 7249 | tuberous sclerosis 2 | We conclude that large deletions in TSC1 and TSC2 account for about 0.5 and 6% of mutations seen in TSC patients, respectively, and MLPA is a highly sensitive and accurate detection method, including for mosaicism | | Human | SRY | 6736 | sex determining region Y | presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism | | Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | analysis of SCN1A parental mosaicism in severe myoclonic epilepsy of infancy Two unrelated families in which two children of unaffected parents had deleterious SCN1A mutations, and show evidence of somatic and germline mosaicism in the transmitting parents | | Human | PEX12 | 5193 | peroxisomal biogenesis factor 12 | Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism | | Human | NF1 | 4763 | neurofibromin 1 | Mosaicism in NF1 associated with neurofibromatosis type 1 is discussed | | Human | LMNA | 4000 | lamin A/C | Variegated translocation mosaicism in cultured fibroblasts | | Human | LAMB3 | 3914 | laminin, beta 3 | Multiple second-site mutations, all correcting the germline mutation LAMB3 (628G-->A;Glu210Lys), are present in 2 unrelated non-Herlitz junctional epidermolysis bullosa patients with revertant mosaicism | | Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis | | Human | FGFR3 | 2261 | fibroblast growth factor receptor 3 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause epidermal nevi and (2) other genes are involved in epidermal nevi Mosaicism of FGFR3 caused an epidermal nevus syndrome with cerebral involvement | | Human | FGFR1 | 2260 | fibroblast growth factor receptor 1 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis | | Human | APC | 324 | adenomatous polyposis coli | Maternal mosaicism for a second mutational event-a novel deletion-in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC APC mosaicism is a frequent cause of familial adenomatous polyposis | | Human | ACTN4 | 81 | actinin, alpha 4 | 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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