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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hyperglycinemia, Lactic Acidosis, and Seizures
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Accession:DOID:9000776 term browser browse the term
Synonyms:exact_synonym: HGCLAS;   PDHLD;   PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
 primary_id: OMIM:614462


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Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,810,027...41,214,542
Ensembl chr 4:40,810,027...41,216,714 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,335,333...40,355,217
Ensembl chr 4:40,335,333...40,355,217 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,867,806...38,945,739
Ensembl chr 4:38,867,677...38,945,739 		JBrowse link
G KLB klotho beta IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,406,930...39,451,533
Ensembl chr 4:39,406,930...39,451,533 		JBrowse link
G KLHL5 kelch like family member 5 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,044,827...39,143,101
Ensembl chr 4:39,045,039...39,126,857 		JBrowse link
G LIAS lipoic acid synthetase IAGP
EXP		 ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency		 OMIM
ClinVar
CTD		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,359,607...41,700,044
Ensembl chr 4:41,359,607...41,700,044 		JBrowse link
G LOC112939935 Sharpr-MPRA regulatory region 11886 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency		 ClinVar PMID:25741868 PMID:26934580 PMID:28492532 NCBI chr 4:39,458,869...39,459,163 JBrowse link
G LOC129992453 ATAC-STARR-seq lymphoblastoid active region 21459 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,459,534...39,459,583 JBrowse link
G N4BP2 NEDD4 binding protein 2 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,056,850...40,190,470
Ensembl chr 4:40,056,797...40,158,252 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,749,955...40,811,184
Ensembl chr 4:40,749,925...40,811,184 		JBrowse link
G PDS5A PDS5 cohesin associated factor A IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,822,863...39,977,911
Ensembl chr 4:39,822,863...39,977,956 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G RBM47 RNA binding motif protein 47 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,423,280...40,630,852
Ensembl chr 4:40,423,267...40,630,875 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RHOH ras homolog family member H IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967 		JBrowse link
G RPL9 ribosomal protein L9 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G SMIM14 small integral membrane protein 14 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,546,336...39,638,865
Ensembl chr 4:39,546,336...39,638,902 		JBrowse link
G TLR1 toll like receptor 1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
G TLR10 toll like receptor 10 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,772,238...38,782,990
Ensembl chr 4:38,772,238...38,782,990 		JBrowse link
G TLR6 toll like receptor 6 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817 		JBrowse link
G TMEM156 transmembrane protein 156 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:38,966,744...39,032,409
Ensembl chr 4:38,966,744...39,032,922 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,698,136...39,782,792
Ensembl chr 4:39,698,109...39,782,792 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        Metabolic Brain Diseases 1861
          mitochondrial encephalomyopathy 119
            Hyperglycinemia, Lactic Acidosis, and Seizures 26
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    mitochondrial myopathy 179
                      mitochondrial encephalomyopathy 119
                        Hyperglycinemia, Lactic Acidosis, and Seizures 26
paths to the root