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9 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... lysine N-methyltransferase 2H</synonym><synonym >probable histone-lysine N-methyltransferase ASH1L</synonym></synonym-list><db-key-list ><db-key ><db >NCBI Gene</db><key >55870</key></db-key><db-key >< ...
  2. KMT2B-Related Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK493766
    ... Locus Protein HGMD ClinVar KMT2B 19q13 ​.12 Histone-lysine N-methyltransferase 2B KMT2B KMT2B Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  3. Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK47079
    ... Specific Databases HGMD ClinVar EHMT1 9q34 ​.3 Histone-lysine N-methyltransferase EHMT1 EHMT1 database EHMT1 EHMT1 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  4. Kabuki Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK62111
    ... UTX @ LOVD KDM6A KDM6A KMT2D 12q13 ​.12 Histone-lysine N-methyltransferase 2D KMT2D database KMT2D KMT2D Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... genetics/gene/arx</url></topic><topic ><title >ASAH1: N-acylsphingosine amidohydrolase ... >https://medlineplus.gov/genetics/gene/ash1l</ ...
  6. EED-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK540017
    ... EED is thought to be necessary for the lysine methyltransferase activity of PRC2. There are seven WD40 domains, though whether these domains have redundant or distinct functions is not yet known. The C-terminal domain of EED binds specifically to trimethylated H3K27 ( ...
  7. Sickle Cell Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1377
    ... reactivating" expression and inducing HbF (e.g., DNA methyltransferase ... gene expression. While pharmaceutical agents are being sought, multiple ...
  8. MELAS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1233
    ... is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord. 1995;5:391-8. [ PubMed : 7496173 ] Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, ...
  9. Childhood Soft Tissue Sarcoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65923
    ... tumor sites were the lower and upper extremities (n = 9). None of the patients ... CREB3L2 gene translocation and, rarely, alternative gene translocations such as ...