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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 10
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Accession:DOID:0110763 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: Autosomal dominant spastic paraplegia;   SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY;   SPG10;   autosomal dominant spastic paraplegia 10;   autosomal dominant spastic paraplegia type 10
 primary_id: MESH:C537482
 alt_id: OMIM:604187;   RDO:0003328
 xref: GARD:9590;   ORDO:100991
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:7240710
RGD:8554872
RGD:12793060
RGD:12793061
RGD:12793065
RGD:12793068
RGD:12793069
RGD:12859090
RGD:12859091
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 6 92,136,242 92,229,578 RGD:8554872
G Nipa1 NIPA magnesium transporter 1 JBrowse link 1 114,385,484 114,422,741 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Rtn2 reticulon 2 JBrowse link 1 80,195,594 80,208,449 RGD:8554872
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Zfyve27 zinc finger FYVE-type containing 27 JBrowse link 1 261,415,172 261,438,539 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 10 11
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 10 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.