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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 63
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Accession:DOID:0110814 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: SPG63;   autosomal recessive spastic paraplegia 63;   spastic paraplegia 63
 primary_id: OMIM:615686
 xref: ORDO:401805


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCYL1 adenosylhomocysteinase like 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,984,765...110,023,742
Ensembl chr 1:109,984,765...110,023,742 		JBrowse link
G AKNAD1 AKNA domain containing 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,815,901...108,858,244
Ensembl chr 1:108,815,898...108,963,484 		JBrowse link
G ALX3 ALX homeobox 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G AMIGO1 adhesion molecule with Ig like domain 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,504,178...109,509,727
Ensembl chr 1:109,504,178...109,509,738 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 More... NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ATXN7L2 ataxin 7 like 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,483,905...109,492,804
Ensembl chr 1:109,483,479...109,492,804 		JBrowse link
G CD53 CD53 molecule IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,871,210...110,899,922
Ensembl chr 1:110,871,188...110,899,922 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751 		JBrowse link
G CFAP276 cilia and flagella associated protein 276 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,105,951...109,113,831
Ensembl chr 1:109,105,951...109,113,857 		JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G CSF1 colony stimulating factor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992 		JBrowse link
G CYB561D1 cytochrome b561 family member D1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,494,094...109,500,435
Ensembl chr 1:109,494,052...109,502,932 		JBrowse link
G DRAM2 DNA damage regulated autophagy modulator 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203 		JBrowse link
G EEIG2 EEIG family member 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,560,100...108,639,322
Ensembl chr 1:108,560,089...108,644,900 		JBrowse link
G ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,114,115...109,206,781
Ensembl chr 1:109,113,679...109,206,781 		JBrowse link
G EPS8L3 EPS8 signaling adaptor L3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,750,080...109,763,923
Ensembl chr 1:109,750,080...109,764,027 		JBrowse link
G FNDC7 fibronectin type III domain containing 7 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,712,908...108,742,749
Ensembl chr 1:108,712,908...108,742,749 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G GPR61 G protein-coupled receptor 61 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,539,872...109,547,260
Ensembl chr 1:109,539,872...109,548,406 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTM2 glutathione S-transferase mu 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GSTM4 glutathione S-transferase mu 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,656,099...109,667,727
Ensembl chr 1:109,656,099...109,665,496 		JBrowse link
G GSTM5 glutathione S-transferase mu 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,711,751...109,718,268
Ensembl chr 1:109,711,780...109,775,428 		JBrowse link
G HENMT1 HEN methyltransferase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526 		JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,517,217...110,519,175
Ensembl chr 1:110,517,217...110,519,175 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNA3 potassium voltage-gated channel subfamily A member 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,653,560...110,674,940
Ensembl chr 1:110,653,560...110,674,940 		JBrowse link
G KCNC4 potassium voltage-gated channel subfamily C member 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,210,314...110,284,080
Ensembl chr 1:110,210,314...110,283,100 		JBrowse link
G LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,401,253...110,407,924
Ensembl chr 1:110,401,249...110,407,942 		JBrowse link
G LOC126805822 BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:25558065 More... NCBI chr 1:109,627,640...109,629,325 JBrowse link
G LOC129931109 ATAC-STARR-seq lymphoblastoid active region 1448 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:109,621,195...109,621,314 JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965 		JBrowse link
G MIR197 microRNA 197 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,598,893...109,598,967
Ensembl chr 1:109,598,893...109,598,967 		JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011 		JBrowse link
G NBPF4 NBPF member 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,222,464...108,272,913
Ensembl chr 1:108,222,464...108,244,081 		JBrowse link
G NBPF6 NBPF member 6 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,421,491...108,471,920
Ensembl chr 1:108,450,282...108,471,920 		JBrowse link
G PROK1 prokineticin 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,451,149...110,457,358
Ensembl chr 1:110,451,149...110,457,358 		JBrowse link
G PRPF38B pre-mRNA processing factor 38B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,692,310...108,702,928
Ensembl chr 1:108,692,310...108,702,928 		JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448 		JBrowse link
G PSRC1 proline and serine rich coiled-coil 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,279,556...109,283,145
Ensembl chr 1:109,279,556...109,283,186 		JBrowse link
G RBM15 RNA binding motif protein 15 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182 		JBrowse link
G SLC16A4 solute carrier family 16 member 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,362,857...110,391,026
Ensembl chr 1:110,362,851...110,391,082 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G SORT1 sortilin 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,309,575...109,397,918
Ensembl chr 1:109,309,568...109,397,918 		JBrowse link
G STRIP1 striatin interacting protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,031,577...110,054,641
Ensembl chr 1:110,031,577...110,074,641 		JBrowse link
G STXBP3 syntaxin binding protein 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,746,674...108,809,523
Ensembl chr 1:108,746,674...108,809,523 		JBrowse link
G SYPL2 synaptophysin like 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,466,546...109,482,134
Ensembl chr 1:109,466,546...109,482,134 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TMEM167B transmembrane protein 167B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:109,090,764...109,096,934
Ensembl chr 1:109,090,764...109,096,934 		JBrowse link
G UBL4B ubiquitin like 4B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:110,112,443...110,113,947
Ensembl chr 1:110,112,443...110,113,947 		JBrowse link
G WDR47 WD repeat domain 47 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:23911318 PMID:28492532 NCBI chr 1:108,970,214...109,042,102
Ensembl chr 1:108,970,214...109,042,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        central nervous system disease 23611
          paraplegia 717
            hereditary spastic paraplegia 567
              hereditary spastic paraplegia 63 56
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        central nervous system disease 23611
          neurodegenerative disease 6582
            Nervous System Heredodegenerative Disorders 4556
              motor peripheral neuropathy 1565
                hereditary spastic paraplegia 567
                  hereditary spastic paraplegia 63 56
paths to the root