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Genes (23)
Species: human : 23 | |
Human | TMEM114 | 283953 | transmembrane protein 114 | TMEM114 has a role in mammalian cataract formation | Human | OPA3 | 80207 | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) | two missense mutations in OPA3 in two families affected by autosomal dominant optic atrophy and cataract (ADOAC) | Human | AIPL1 | 23746 | aryl hydrocarbon receptor interacting protein-like 1 | The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset | Human | BFSP2 | 8419 | beaded filament structural protein 2, phakinin | Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation | Human | PITX3 | 5309 | paired-like homeodomain 3 | The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree | Human | PCNA | 5111 | proliferating cell nuclear antigen | The over-expression of PCNA in the lens epithelium of fetus and children suggests that PCNA might be related to the development of cataract | Human | NHS | 4810 | Nance-Horan syndrome (congenital cataracts and dental anomalies) | X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | Wild-type MTHFR (methylenetetrahydrofolate reductase) in cataract may suggest impaired DNA synthesis as a cataractogenic factor | Human | MIP | 4284 | major intrinsic protein of lens fiber | Arginine in this domain plays a crucial role in the function of the carboxyl-end of this protein and provides a helpful clue to further studies on completely understanding the physiological significance of MIP and its role in the formation of cataract | Human | LCT | 3938 | lactase | Synergistic effect of GALT and galactose-1-phosphate uridylyltransferase mutations on cataract formation | Human | HSF4 | 3299 | heat shock transcription factor 4 | These results identified a novel missense mutation R74H in the transcription factor gene HSF4 in a Chinese cataract family and expand the spectrum of HSF4 mutations causing cataract This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants | Human | GSTT1 | 2952 | glutathione S-transferase theta 1 | GSTM1-null genotype or combination of the GSTM1-null and GSTT1-positive genotypes in females may be associated with increased risk of cataract development in the Turkish population | Human | GJA8 | 2703 | gap junction protein, alpha 8, 50kDa | A novel GJA8 gene mutation was found to be associated with hereditary cataract in a Chinese congenital cataract family A p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin, is reported Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract The ins776G mutation most likely causes a recessive triangular cataract with variable expressivity of a weak phenotype in heterozygotes | Human | GALT | 2592 | galactose-1-phosphate uridylyltransferase | Synergistic effect of GALT and lactase mutations on cataract formation Title:Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.|Association:Y|Conclusion:Our results support the reported association of decreased GALT activity with idiopathic presenile cataract. Molecular analysis indicates that, in the Slovenian population, this association is linked to the K285N mutation, which is neonatally benign in heterozygotes. | Human | DMPK | 1760 | dystrophia myotonica-protein kinase | Title:[Myotonic dystrophy type 1 in cataract patients:molecular diagnosis for screening and genetic counseling]|Association:Not Found|Conclusion:These results emphazise the importance of screening for MD1 gene carriers among cataract patients, and further genetic counselling. Title:|Association:Not Found|Conclusion:Not Found | Human | CRYGS | 1427 | crystallin, gamma S | A lens gamma S-crystallin has been identified with an in vivo modification, S-methylation of cysteine residues, that may block intermolecular disulfide bondng and serve as a form of protection against cataract | Human | CRYGD | 1421 | crystallin, gamma D | Title:Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.|Association:Not Found|Conclusion:Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population. It appearS to be caused by a missense mutation in the CRYGD gene, further supporting the notion that alterations to CRYG play an important factor in human cataract formation This study has identified an eighth type of cataract morphology associated with CRYGD and suggests that a CRYGD mutation may underlie the historically important "coralliform" cataract first reported in 1895 | Human | CRYGC | 1420 | crystallin, gamma C | the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract | Human | CRYBB2 | 1415 | crystallin, beta B2 | Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation | Human | CRYBA1 | 1411 | crystallin, beta A1 | Title:Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.|Association:Not Found|Conclusion:Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population. comprehensive description of the biophysical consequences of a mutant beta-crystallin protein that is associated with human inherited cataract | Human | CRYAA | 1409 | crystallin, alpha A | this is the first knock-in mouse model for a crystallin mutation causing hereditary human cataract and establishes that alphaA-R49C promotes protein insolubility and cell death in vivo Based upon the unique finding of the mutation and the expression of CRYAA in the lens, this R21L mutation in the CRYAA is considered to be causative for the dominant cataract phenotype the decrease in the solubility of the alphaA-R49C mutant protein was due to an increase in its hydrophobicity and supra-aggregation of alphaA-crystallin that leads to cataract formation G98R mutation causes conformational changes that makes the complexes the mutant protein forms with certain substrates prone to precipitattion, suggesting an etiology of cataract in individuals with this mutation | Human | BCL2 | 596 | B-cell CLL/lymphoma 2 | The over-expression of bcl-2 in the lens epithelium of fetus and children suggests that bcl-2 might be related to the development of cataract | Human | APOE | 348 | apolipoprotein E | no association between macular degeneration and APOE polymorphism; A weak negative association between APOE4 and cataract and apolipoprotein E3 may be a protective factor against the loss of nerve fibres in the macular region |
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