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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:Paralysis
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Accession:DOID:9005246 term browser browse the term
Definition:A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Synonyms:exact_synonym: Palsies;   Palsy;   Paralyses;   Plegia;   Plegias;   Todd Paralysis;   Todd's Paralysis;   Todds Paralysis
 primary_id: MESH:D010243
 xref: EFO:1000631


show annotations for term's descendants           Sort by:
Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122394 PMID:18762355 PMID:21706413 PMID:22952840 PMID:28915354 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:122883 PMID:910611 PMID:1218179 PMID:1734774 PMID:4319258 More... NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18694773 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7433326 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23547115 NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated IEP mRNA, protein:decreased expression:skeletal muscle RGD PMID:8769807 RGD:1599993 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS		 OMIM:258501
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
alternating hemiplegia of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:104290 | OMIM:614820
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
DNA:missense mutations:exon:multiple		 CTD
MouseDO
ClinVar
RGD		 PMID:22842232 PMID:24033266 PMID:24631656 PMID:25741868 PMID:24431296 RGD:11576279 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Alternating Hemiplegia of Childhood 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar		 PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15159495 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
Alternating Hemiplegia of Childhood 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 OMIM
ClinVar		 PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		 OMIM
CTD
ClinVar		 PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 OMIM
CTD
ClinVar		 PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 OMIM
CTD
ClinVar		 PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 OMIM
CTD
ClinVar		 PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		 OMIM
CTD
ClinVar		 PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		 OMIM
CTD
ClinVar		 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29290614 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23020937 PMID:23934111 PMID:25326637 PMID:25740509 PMID:25741868 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)		 CTD
RGD		 PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 More... RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar
RGD		 PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions		 ClinVar
RGD		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM
ClinVar		 PMID:25741868 PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISS
ISO		 OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL		 MouseDO
ClinVar		 PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISS
ISO		 OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles		 MouseDO
ClinVar		 PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
congenital fibrosis of the extraocular muscles 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition		 CTD
ClinVar
OMIM
RGD		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999 		JBrowse link
congenital fibrosis of the extraocular muscles 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2		 OMIM
CTD
ClinVar		 PMID:11600883 PMID:25741868 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118 		JBrowse link
congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy		 OMIM
CTD
ClinVar		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
congenital fibrosis of the extraocular muscles 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5		 OMIM
CTD
ClinVar		 PMID:25500261 PMID:25741868 PMID:31875546 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501 		JBrowse link
congenital myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276 		JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myh2 myosin heavy chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Diabetic Gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:pyloric antrum (rat) RGD PMID:29071981 RGD:13446417 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome		 OMIM
CTD
ClinVar		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A		 OMIM
CTD
ClinVar		 PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28492532 NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
early-onset dystonia and/or spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mc3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia OMIM
ClinVar		 PMID:19006192 PMID:34636445 PMID:34954817 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279 		JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378827 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
hemiplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:15998695 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836 		JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836 		JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
G Adam28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 More... NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767 		JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar
RGD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... RGD:1600602 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930 		JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 CTD
ClinVar		 PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32147972 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:27860360 More... NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 More... RGD:1624200, RGD:1624200 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kif1a kinesin family member 1A ISO DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar
RGD		 PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... RGD:12911231 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 PMID:31402626 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 CTD
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia		 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD		 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 More... RGD:1556574 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:25741868 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264 		JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive		 ClinVar PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Kif5a kinesin family member 5A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO
ISS		 OMIM:604360
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum		 OMIM
MouseDO
CTD
ClinVar		 PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037 		JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12		 OMIM
CTD
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO
ISS		 OMIM:605280
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 More... RGD:10402832 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO
ISS		 OMIM:270700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration		 OMIM
MouseDO
CTD
ClinVar		 PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18		 OMIM
CTD
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS		 OMIM:312920
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2		 OMIM
MouseDO
CTD
ClinVar		 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 23		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:33624863 NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 26		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952 		JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Kif1a kinesin family member 1A ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
OMIM:610357
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 More... RGD:12911228, RGD:12911224 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More...
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 4:104,259,992...104,292,168
Ensembl chr 4:104,259,992...104,292,168 		JBrowse link
G C4h2orf68 similar to human chromosome 2 open reading frame 68 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:104,402,553...104,408,317
Ensembl chr 4:104,402,588...104,408,320 		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 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Immt inner membrane mitochondrial protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 More... NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109 		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 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		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 4:103,865,812...103,876,687
Ensembl chr 4:103,865,812...103,880,887 		JBrowse link
G Polr1a RNA polymerase I subunit 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 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		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 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538 		JBrowse link
G Reep1 receptor accessory protein 1 ISO
ISS		 OMIM:610250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338 		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 4:104,414,586...104,421,433
Ensembl chr 4:104,414,605...104,421,309 		JBrowse link
G Sftpb surfactant 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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		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 4:104,134,613...104,192,558
Ensembl chr 4:104,134,613...104,192,558 		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 4:104,410,271...104,414,630
Ensembl chr 4:104,410,516...104,429,349 		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 4:104,373,948...104,406,359
Ensembl chr 4:104,373,955...104,406,359 		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 4:104,423,813...104,435,059
Ensembl chr 4:104,423,820...104,426,212 		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 4:104,442,383...104,452,884
Ensembl chr 4:104,442,393...104,452,897 		JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis		 OMIM
CTD
ClinVar		 PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193 		JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION ClinVar PMID:12610310 PMID:16829191 PMID:21735565 PMID:28492532 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO
ISS		 OMIM:612319
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION ClinVar PMID:12610310 PMID:16829191 PMID:21735565 PMID:28492532 NCBI chr20:32,629,537...32,639,559 JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Pex11g peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,502,606...1,532,347
Ensembl chr12:1,503,646...1,512,585 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39		 OMIM
CTD
ClinVar		 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Saxo5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,520,983...1,538,127
Ensembl chr12:1,521,014...1,538,118 		JBrowse link
G Zfp358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:28492532 NCBI chr12:1,552,367...1,556,460
Ensembl chr12:1,552,366...1,556,460 		JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2255281 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799 		JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO
ISS		 ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
OMIM:182601
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229 		JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 42		 OMIM
CTD
ClinVar		 PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
DNA:missense mutation:cds:p.I33M (human)		 OMIM
CTD
ClinVar
RGD		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:19056803 RGD:13208577 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 More... NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 More... NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2l15 Bcl2-like 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078 		JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480 		JBrowse link
G Csde1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784 		JBrowse link
G Cttnbp2nl CTTNBP2 N-terminal like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488 		JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Olfml3 olfactomedin-like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050 		JBrowse link
G Phtf1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078 		JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197