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PMID Allele Disease Population Drug Names SNP Class Sentence
32212948 MHC (MHC) 22q112 deletion syndrome NA NA NA unclassified
differential methylation of imprinting genes and mhc locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders.
32212948 MHC (MHC) 22q11.2ds NA NA NA unclassified
the most significant dmr is located in mhc locus and covered the transcription regulator zfp57 that is required for control and maintenance of gene imprinting at multiple icrs.conclusions: the differential methylation in imprinting genes and in chr6p21-22 indicate the neurodevelopmental nature of 22q11.2ds-related sz and the major role of mhc locus in the risk to develop sz.
32212948 MHC (MHC) 22q11.2ds NA NA NA unclassified
the differential methylation in imprinting genes and in chr6p21-22 indicate the neurodevelopmental nature of 22q11.2ds-related sz and the major role of mhc locus in the risk to develop sz.
32500460 HLA (HLA) x-linked hyper igm syndrome NA NA NA unclassified
complex preimplantation genetic tests for robertsonian translocation, hla, and x-linked hyper igm syndrome caused by a novel mutation of cd40lg gene.
32500460 HLA (HLA) x-linked hyper igm syndrome NA NA NA unclassified
purposeto perform complex preimplantation genetic tests (pgt) for aneuploidy screening, robertsonian translocation, hla-matching, and x-linked hyper igm syndrome (xhigm) caused by a novel mutation c.156 g>t of cd40lg gene.
32500460 HLA (HLA) x-linked hyper igm syndrome NA NA NA unclassified
the novel mutation of c. 156 g>t in cd40lg gene probably leads to xhigm by nonsense-meditated mrna decay (nmd), and complex pgt of preimplantation genetic testing for monogenic disease (pgt-m), aneuploidy (pgt-a), structural rearrangement (pgt-sr), and hla-matching (pgt-hla) can be performed in pedigree with both x-linked hyper igm syndrome and robertsonian translocation.
32722785 HLA MATCHED (HLA-MATCHED) invasive fungal infection NA NA NA unclassified
these data support the establishment of a bank of cryopreserved fungus-specific t cells using normal donors with common hla drb1 molecules and testing of partially hla-matched third-party donor fungus-specific t cells as a potential therapeutic in patients with invasive fungal infection after hsct.
32722785 HLA-DRB1 (HLA-DRB1) invasive fungal infection NA NA NA unclassified
these data support the establishment of a bank of cryopreserved fungus-specific t cells using normal donors with common hla drb1 molecules and testing of partially hla-matched third-party donor fungus-specific t cells as a potential therapeutic in patients with invasive fungal infection after hsct.
32771349 HLA (HLA) pain postoperative NA NA NA unclassified
gene expression analysis identified hla-drb3 as having increased expression in children who experienced persistent pain postoperatively, as opposed to those whose pain resolved.
34174520 HLA (HLA) gallstones NA NA NA unclassified
preliminary studies have shown that a lithogenic diet (lg), which contains cholesterol and cholic acid, induces gallstones and hepatic lipid accumulation (hla), and reduction of blood triglyceride in mice.
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