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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;   RDO:0002342
For additional species annotation, visit the Alliance of Genome Resources.



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 chr20:25,307,143...25,329,260
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 chr10:67,845,382...67,873,389
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 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 More... NCBI chr 1:78,881,392...78,899,549
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 ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
DNA:missense mutations:exon:multiple
CTD
ClinVar
RGD
PMID:22842232 PMID:24033266 PMID:24631656 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:15174025 More... 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: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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
ClinVar Annotator: match by OMIM:614820
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 ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
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 PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 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: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 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: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 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 ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2
ClinVar Annotator: match by OMIM:609283
OMIM
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 ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 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: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 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 ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
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 ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 OMIM
ClinVar
PMID:23352259 PMID:25741868 NCBI chr20:25,661,652...25,690,598 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 PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 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 RECESSIVE 1
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
OMIM
ClinVar
PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:25741868 PMID:26094573 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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
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 ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
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 ClinVar
OMIM
PMID:25741868 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:16177225 PMID:17088268 PMID:17426723 PMID:17438011 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: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 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 ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
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
OMIM
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 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 with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar PMID:21646632 PMID:21951382 PMID:24741716 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 with mitochondrial DNA deletions
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar
RGD
PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 More... RGD:1600544 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... 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 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO
ISS
ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar
MouseDO
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 JBrowse link
G Tubb3 tubulin, beta 3 class III ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO 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)
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 1
ClinVar
OMIM
RGD
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 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 ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar
PMID:11600883 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 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 OMIM:600638
OMIM
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 ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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 ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
OMIM
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 viia 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 viia 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 viia 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 viia 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 viia 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 ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
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, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia 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 viia 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: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
OMIM
ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 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: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: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:28166811 PMID:28492532 PMID:29213238 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
FACIAL PALSY, CONGENITAL, 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 ClinVar
OMIM
PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
ClinVar
OMIM
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 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 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 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: Hereditary congenital facial paresis 3
ClinVar Annotator: match by OMIM:614744
OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 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 ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
ClinVar Annotator: match by OMIM:607225
OMIM
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
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: RGD PMID:26026163 RGD:13434921 NCBI chr 1:239,375,657...239,407,967
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:25741868 PMID:28492532 PMID:28832565 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: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:28832565 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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:26467025 PMID:28492532 PMID:28832565 PMID:20613862 RGD:9684952 NCBI chr12:12,093,834...12,109,043 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 chr18:54,364,416...54,370,995
Ensembl chr18:54,364,088...54,371,767
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:24473461 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
RGD
PMID:28492532 PMID:28832565 PMID:13680364 RGD:1600602 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 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:2411763 PMID:18252231 PMID:18855023 PMID:19439420 PMID:19812052 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25558065 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 Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 PMID:30564185 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:24033266 PMID:24833714 PMID:27217339 PMID:28017243 PMID:31135052 NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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 Annotator: match by term: Spastic Paraplegia, Dominant
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 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
RGD
PMID:11898127 PMID:27630992 PMID:28166811 PMID:28492532 PMID:28832565 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 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr10:55,401,982...55,414,364
Ensembl chr10:55,401,982...55,414,114
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 ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar
RGD
PMID:25585697 PMID:25741868 PMID:26410750 PMID:28492532 PMID:28832565 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:24088041 PMID:26633545 PMID:28492532 PMID:28832565 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:18500496 PMID:18853458 PMID:21623771 PMID:25008398 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 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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 LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:24361204 PMID:25558065 PMID:28492532 PMID:28832565 More... NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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 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:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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...60,303,024
Ensembl chr16:59,250,854...60,296,884
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 Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:20382209 PMID:26467025 PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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 Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 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 JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:19779133 PMID:20852969 PMID:22287014 PMID:23280630 PMID:23497566 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 PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 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:28832565 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 Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 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: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:17322883 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 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 RGD PMID:14564668 RGD:1556574 NCBI chr 8:65,980,955...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 CTD PMID:23176824 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar 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: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:19917823 PMID:26467025 PMID:28492532 PMID:28832565 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 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)
ClinVar Annotator: match by OMIM:604187
OMIM
ClinVar
RGD
PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 PMID:18203753 More... RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061, RGD:12793060 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: 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 7:90,884,333...90,936,118
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: Spastic paraplegia 11, autosomal recessive 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: Spastic paraplegia 11, autosomal recessive 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: Spastic paraplegia 11, autosomal recessive ClinVar 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: Gait disturbance 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 Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by OMIM:604360
OMIM
ClinVar
PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 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: Spastic paraplegia 11, autosomal recessive 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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by OMIM:604805
OMIM
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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605280
OMIM
ClinVar
CTD
RGD
PMID:10677329 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:270700
OMIM
ClinVar
PMID:6944241 PMID:11342696 PMID:16199547 PMID:17661097 PMID:18098276 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: Spastic paraplegia 17 OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar Annotator: match by OMIM:611225
OMIM
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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM
ClinVar
PMID:1720927 PMID:2773936 PMID:7522741 PMID:7531827 PMID:8012387 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: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:2773936 PMID:7522741 PMID:7531827 PMID:8012387 PMID:8320699 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
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:100,010,675...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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23746551 PMID:25741868 PMID:28492532 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 Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
ClinVar Annotator: match by OMIM:609340
OMIM
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 Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16434418 PMID:17576681 PMID:18414213 PMID:21376300 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
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
ClinVar Annotator: match by OMIM:610250
OMIM
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
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 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic tetraparesis
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant
OMIM
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 Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia 35 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO 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, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612020
OMIM
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
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
ClinVar Annotator: match by term: Spastic paraplegia 3
ClinVar Annotator: match by OMIM:182600
OMIM
ClinVar
PMID:4684346 PMID:8252041 PMID:9536098 PMID:11685207 PMID:12112092 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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:26467025 PMID:28492532 NCBI chr 6:88,284,094...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: Spastic paraplegia 4, autosomal dominant 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 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by OMIM:182601
OMIM
ClinVar
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 Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant 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 Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant 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 ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant
ClinVar Annotator: match by OMIM:612539
OMIM
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 LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 More... NCBI chr 1:90,873,542...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 ClinVar Annotator: match by term: Spastic paraplegia 44, autosomal recessive
DNA:missense mutation:cds:p.I33M (human)
ClinVar Annotator: match by OMIM:613206
OMIM
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: Spastic paraplegia 45, autosomal recessive ClinVar 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 ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by OMIM:613162
OMIM
ClinVar
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 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 Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive
ClinVar Annotator: match by OMIM:614409
OMIM
ClinVar
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 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 Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by OMIM:614066
OMIM
ClinVar
PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive
ClinVar Annotator: match by OMIM:613647
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24482476 More... NCBI chr12:12,093,834...12,109,043 JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 49
OMIM
ClinVar
PMID:23176824 PMID:25590979 PMID:25741868 PMID:26431026 PMID:26542466 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by OMIM:612936
OMIM
ClinVar
PMID:18414213 PMID:19559397 PMID:21937992 PMID:24700674 PMID:25326635 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar Annotator: match by OMIM:613744
OMIM
ClinVar
PMID:20972249 PMID:21937992 PMID:25741868 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
ClinVar Annotator: match by OMIM:614898
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22717650 PMID:25741868 PMID:28492532 More... NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive
ClinVar Annotator: match by OMIM:615033
OMIM
ClinVar
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
ClinVar Annotator: match by OMIM:615030
OMIM
ClinVar
PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 PMID:28492532 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr11:43,885,542...43,911,976
Ensembl chr11:43,885,661...43,911,976
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 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 ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:270800
OMIM
ClinVar
CTD
PMID:2411763 PMID:7987300 PMID:9802883 PMID:12874406 PMID:15007371 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive OMIM
ClinVar
PMID:28492532 NCBI chr 1:172,430,475...172,439,990
Ensembl chr 1:172,430,489...172,439,994
JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by OMIM:615681
ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar
OMIM
PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
ClinVar Annotator: match by OMIM:615686
OMIM
ClinVar
PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by OMIM:615683
ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar
OMIM
PMID:24482476 PMID:25741868 PMID:28492532 PMID:30652007 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:51,117,045...51,151,228
Ensembl chr19:51,117,057...51,150,484
JBrowse link
hereditary spastic paraplegia 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive OMIM
ClinVar
PMID:24388663 PMID:24482476 PMID:25741868 PMID:28491902 PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Spastic paraplegia 73, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive ClinVar
OMIM
PMID:25609768 PMID:25741868 PMID:28492532 NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar
PMID:24482476 PMID:25741868 PMID:26179919 PMID:28492532 PMID:28832565 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO ClinVar Annotator: match by OMIM:616907
ClinVar Annotator: match by term: Spastic paraplegia 76, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:27153400 PMID:32214227 PMID:32860008 PMID:33486633 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by OMIM:603563
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Spastic paraplegia 8
ClinVar
OMIM
PMID:9536098 PMID:17160902 PMID:17576681 PMID:20833645 PMID:23455931 More... NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162
OMIM
ClinVar
RGD
PMID:8779323 PMID:9536098 PMID:9973297 PMID:17576681 PMID:21739576 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
ClinVar Annotator: match by OMIM:615281
OMIM
ClinVar
PMID:23643384 PMID:25741868 PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
ClinVar Annotator: match by OMIM:614457
OMIM
ClinVar
PMID:22100072 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
Kearns-Sayre syndrome 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 Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G L1cam L1 cell adhesion molecule ISO DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303350
ClinVar
CTD
OMIM
RGD
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7562969 PMID:7881431 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Mast syndrome
ClinVar Annotator: match by OMIM:248900
OMIM
ClinVar
PMID:6024251 PMID:9536098 PMID:14564668 PMID:17576681 PMID:24451228 More... NCBI chr 8:65,980,955...66,008,537
Ensembl chr 8:65,980,962...66,008,536
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miles-Carpenter syndrome
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
ClinVar Annotator: match by OMIM:615084
OMIM
ClinVar
PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
JBrowse link
multiminicore disease 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...116,937,586
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Minicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by OMIM:255320
OMIM
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:7299413 PMID:9497245 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Multiminicore Disease ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912 JBrowse link
OCULOMOTOR-ABDUCENS SYNKINESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: OCULOMOTOR-ABDUCENS SYNKINESIS OMIM
ClinVar
PMID:31211835 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies OMIM
ClinVar
PMID:10844060 PMID:25741868 PMID:29887215 NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
JBrowse link
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: Spastic paraplegia ClinVar PMID:25741868 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213 PMID:25167861 PMID:25741868 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: Spastic paraplegia ClinVar PMID:25741868 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: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25552650 PMID:25741868 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr12:12,093,834...12,109,043 JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr18:54,364,416...54,370,995
Ensembl chr18:54,364,088...54,371,767
JBrowse link
G Atg7 autophagy related 7 IEP RGD PMID:23055316 RGD:11557990 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:16537571 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 More... NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26998597 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:26936192 PMID:27292318 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 ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:2411763 PMID:7987300 PMID:9802883 PMID:15007371 PMID:18252231 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21330303 PMID:23109145 More... 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: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:20104589 PMID:20853438 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
JBrowse link
G Foxo4 forkhead box O4 IEP protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 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: Spastic paraplegia ClinVar PMID:8733901 PMID:15192806 PMID:18094336 PMID:20513814 PMID:20695017 More... NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17420924 PMID:18414213 PMID:19706612 PMID:22552817 PMID:24033266 More... NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15586325 PMID:16199547 PMID:18414213 PMID:18697827 PMID:22326837 More... NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:24088041 PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 More... NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:7562969 PMID:7762552 PMID:7920659 PMID:8062435 PMID:8069317 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9285787 PMID:9305655 PMID:10790201 PMID:11793470 PMID:12646134 More... NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: 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 Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) RGD PMID:21959174 RGD:5509577 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
JBrowse link
G Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 PMID:22703882 More... NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22232211 PMID:25741868 PMID:26467025 PMID:27165006 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: Spastic paraplegia ClinVar PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 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: Spastic paraplegia ClinVar PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More... NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15488219 PMID:15889350 PMID:16199547 PMID:16957765 PMID:17899191 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16199547 PMID:16240363 PMID:20932283 PMID:23833562 PMID:25341883 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: Spastic paraplegia ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23043354 PMID:23733235 More... NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15034582 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Spastic paraplegia 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
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28166811 More... NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 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, digenic ClinVar PMID:12872260 PMID:28812649 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Mapt microtubule-associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601104
DNA:SNPs, haplotypes::
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM
ClinVar
CTD
RGD
PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 More... RGD:8158100, RGD:8158099, RGD:8158095 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO OMIM NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
proximal myopathy and ophthalmoplegia 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 Annotator: match by term: Myopathy, pro