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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:hereditary spastic paraplegia 31
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Accession:DOID:0110782 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: SPG31;   autosomal dominant spastic paraplegia 31;   autosomal dominant spastic paraplegia type 31
 primary_id: MESH:C565210
 alt_id: OMIM:610250
 xref: GARD:10817;   ORDO:101011


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hereditary spastic paraplegia 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 0610030E20Rik RIKEN cDNA 0610030E20 gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,324,017...72,330,145
Ensembl chr 6:72,324,300...72,330,131 		JBrowse link
G Atoh8 atonal bHLH transcription factor 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,183,158...72,212,765
Ensembl chr 6:72,183,161...72,212,561 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		JBrowse link
G Immt inner membrane protein, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:71,806,200...71,852,250
Ensembl chr 6:71,808,315...71,854,372 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,409,779...72,416,539
Ensembl chr 6:72,409,782...72,416,541 		JBrowse link
G Mrpl35 mitochondrial ribosomal protein L35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:71,789,981...71,800,768
Ensembl chr 6:71,789,981...71,803,953 		JBrowse link
G Polr1a polymerase (RNA) I polypeptide A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919 		JBrowse link
G Ptcd3 pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:71,857,622...71,886,080
Ensembl chr 6:71,857,622...71,885,734 		JBrowse link
G Reep1 receptor accessory protein 1 ISO
IAGP		 OMIM:610250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694 		JBrowse link
G Rnf181 ring finger protein 181 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,336,695...72,343,977
Ensembl chr 6:72,336,697...72,343,939 		JBrowse link
G Sftpb surfactant associated protein B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354 		JBrowse link
G St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,074,555...72,131,555
Ensembl chr 6:72,074,576...72,131,555 		JBrowse link
G Tmem150a transmembrane protein 150A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,332,466...72,336,745
Ensembl chr 6:72,332,430...72,336,745 		JBrowse link
G Usp39 ubiquitin specific peptidase 39 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,295,749...72,322,190
Ensembl chr 6:72,295,661...72,322,167 		JBrowse link
G Vamp5 vesicle-associated membrane protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,345,032...72,357,451
Ensembl chr 6:72,345,777...72,357,451 		JBrowse link
G Vamp8 vesicle-associated membrane protein 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 6:72,362,204...72,367,650
Ensembl chr 6:72,362,206...72,367,686 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          paraplegia 567
            hereditary spastic paraplegia 448
              hereditary spastic paraplegia 31 16
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            Nervous System Heredodegenerative Disorders 3288
              motor peripheral neuropathy 1203
                hereditary spastic paraplegia 448
                  hereditary spastic paraplegia 31 16
paths to the root