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Genes (24)
Species:
human : 24 | |
| Human | LOC100507436 | 100507436 | | Title:Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease|Association:Y|Conclusion:Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes. | | Human | MIR212 | 406994 | microRNA 212 | The aims of our study were: (i) to investigate the effect of alcohol on miRNA-212 (miR-212) and on expression of its predicted target gene, ZO-1, (ii) to study the potential role of miR-212 in the pathophysiology of ALD in man | | Human | EXOSC6 | 118460 | exosome component 6 | We have recently identified increased expression of p11 genes that implicate fibrinolysis in ALD progression | | Human | ACSBG2 | 81616 | acyl-CoA synthetase bubblegum family member 2 | The limited tissue expression pattern and limited substrate specificity rule out a likely role for this enzyme in X-linked adrenoleukodystrophy pathology | | Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | Missense mutation in PTPN22 is asssociated with Addison's disease | | Human | CLEC16A | 23274 | C-type lectin domain family 16, member A | Two alleles at 16p13 are independently associated with the risk of Addison's disease in the Norwegian population, suggesting this chromosomal region to harbor common autoimmunity gene(s), CLEC16A and CIITA being possible independent candidates | | Human | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | expression tends to be correlated with the severity of X-linked adrenoleukodystrophy | | Human | BCAP31 | 10134 | B-cell receptor-associated protein 31 | Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders | | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Title:Vitamin D receptor genotype is associated with Addison's disease.|Association:Y|Conclusion:These data suggest that the VDR genotype is associated with Addison's disease. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated. | | Human | TTPA | 7274 | tocopherol (alpha) transfer protein | Increase expression of tPA implicate fibrinolysis in ALD progression | | Human | SRD5A2 | 6716 | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) | This is the first demonstration of an alteration of 5alpha-reductase isoform 2 gene expression in X-ALD, that may be related to the steroidogenesis impairment and to the specific organ malfunction | | Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | The accumulation of alpha-synuclein may also be a condition that is common to lysosomal storage diseases and adrenoleukodystrophies that show an enhanced expression of this protein upon the elevation of stored lipids | | Human | S100B | 6285 | S100 calcium binding protein B | Serum S100B levels cannot serve as peripheral marker in the evaluation of brain disease in X-ALD and GD | | Human | ABCD4 | 5826 | ATP-binding cassette, sub-family D (ALD), member 4 | expression tends to be correlated with the severity of X-linked adrenoleukodystrophy | | Human | ABCD3 | 5825 | ATP-binding cassette, sub-family D (ALD), member 3 | Testosterone metabolites did not alter expression of ABCD3 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients | | Human | PLG | 5340 | plasminogen | We have recently identified increased expression of tPA genes that implicate fibrinolysis in ALD progression | | Human | IL10 | 3586 | interleukin 10 | we have found modest differences in genotype distribution for two functionally significant polymorphisms, IL-6 +174 and IL-10 -592, between patients with decompensated ALD and heavy-drinking controls | | Human | HLA-DRB1 | 3123 | | Title:MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency|Association:Not Found|Conclusion:Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes. Title:Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease|Association:Y|Conclusion:Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes. | | Human | HFE | 3077 | hemochromatosis | HFE mutations, although modestly influencing liver iron, do not predispose to clinically significant ALD | | Human | CTLA4 | 1493 | cytotoxic T-lymphocyte-associated protein 4 | Title:Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.|Association:Y|Conclusion:This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders. Title:A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients.|Association:Y|Conclusion:These results indicate that differences exist in the frequency of the 106 base pair allele in different population groups and in only the English population was the 106 base pair allele associated with Addison's disease. Title:|Association:Not Found|Conclusion:Not Found | | Human | CBS | 875 | cystathionine-beta-synthase | The cystathionine beta-synthase variant (insertion allele of CBS c.844_845ins68) protects against CNS demyelination in X-linked adrenoleukodystrophy | | Human | AIRE | 326 | autoimmune regulator | Adrenal insufficiency (Addison disease) | | Human | ABCD2 | 225 | ATP-binding cassette, sub-family D (ALD), member 2 | Testosterone metabolites increased expression of ABCD2 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-linked adrenoleukodystrophy | | Human | ABCD1 | 215 | ATP-binding cassette, sub-family D (ALD), member 1 | For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype mutational analysis in patients with X-linked adrenoleukodystrophy The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy Fifteen new mutations are described in Adrenoleukodystrophy patients Six different missense mutations in ALD were identified in seven Japanese families |
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