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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16122394 PMID:18762355 PMID:21706413 PMID:22952840 PMID:28915354 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G ATP7A ATPase copper transporting alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:122883 PMID:910611 PMID:1218179 PMID:1734774 PMID:4319258 More... NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:18694773 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:7433326 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G MOG myelin oligodendrocyte glycoprotein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23547115 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA, protein:decreased expression:skeletal muscle RGD PMID:8769807 RGD:1599993 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
JBrowse link
G UNC45B unc-45 myosin chaperone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar
OMIM
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
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 IAGP
EXP
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP
EXP
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:22842232 PMID:24033266 PMID:24631656 PMID:24431296 RGD:11576279 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar
PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15174025 More... NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 IAGP ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 ClinVar
OMIM
PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar
OMIM
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
ClinVar
OMIM
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 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 chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
ClinVar
OMIM
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy
ClinVar
OMIM
PMID:23352259 PMID:25741868 PMID:28492532 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:25741868 PMID:26094573 PMID:28492532 NCBI chr 2:3,522,355...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM
ClinVar
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
ClinVar
OMIM
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
G DGUOK-AS1 DGUOK antisense RNA 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 ClinVar PMID:25741868 NCBI chr 2:73,957,967...73,981,439
Ensembl chr 2:73,947,322...73,982,164
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 IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29290614 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007
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 IEP protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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 IAGP 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 chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
ClinVar
OMIM
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia, proximal myopathy, and sudden death ClinVar PMID:8265770 PMID:8786060 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar PMID:29398297 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP
EXP
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD
RGD
PMID:17923349 PMID:12565911 PMID:17420318 PMID:16401742 PMID:12975295 More... RGD:8694170, RGD:8694204, RGD:8694183, RGD:8694163, RGD:737726 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP 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 chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP 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 PMID:28492532 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar
RGD
PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility IAGP 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 chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB6 tubulin beta 6 class V IAGP ClinVar Annotator: match by term: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
ClinVar
OMIM
PMID:25741868 PMID:29016863 NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
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 IAGP
ISS
ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar
MouseDO
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
JBrowse link
G TUBB3 tubulin beta 3 class III ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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 IAGP DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 1
ClinVar
OMIM
RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
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 IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 ClinVar
OMIM
PMID:11600883 NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664
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 IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by term: TUBB3-related tubulinopathy
ClinVar Annotator: match by term: TUBB3-Related Disorder
ClinVar Annotator: match by term: FEOM3 LOCUS
OMIM
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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 IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752
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 ISO mRNA:decreased expression:pyloric antrum (rat) RGD PMID:29071981 RGD:13446417 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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 IAGP ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities
ClinVar
OMIM
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415
JBrowse link
G GCC2-AS1 GCC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,507,527...108,534,219
Ensembl chr 2:108,507,515...108,534,196
JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246
JBrowse link
G LIMS1-AS1 LIMS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,676,795...108,678,601
Ensembl chr 2:108,676,795...108,678,601
JBrowse link
G LINC01593 long intergenic non-protein coding RNA 1593 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,049,200...108,052,755
Ensembl chr 2:108,049,200...108,052,755
JBrowse link
G LINC01594 long intergenic non-protein coding RNA 1594 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,167,748...108,217,841
Ensembl chr 2:108,167,125...108,217,886
JBrowse link
G LOC107305685 2q12.3 distal recombination region IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,521,416...108,521,695 JBrowse link
G LOC112695112 Sharpr-MPRA regulatory region 6630 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,662,173...108,662,467 JBrowse link
G LOC122817721 Sharpr-MPRA regulatory region 7983 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,533,333...108,533,627 JBrowse link
G LOC122817722 Sharpr-MPRA regulatory region 1013 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,575,293...108,575,587 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,809
JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
OMIM
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915
JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351
JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989
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 IAGP ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
ClinVar Annotator: match by term: HMN VIIB
ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
ClinVar Annotator: match by term: Genetic motor neuron disease
OMIM
ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 1:6,466,092...6,520,092
Ensembl chr 1:6,467,122...6,520,074
JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238 NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20460441 PMID:21336783 PMID:22702953 PMID:25900305 More... NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP ClinVar Annotator: match by term: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA OMIM
ClinVar
PMID:19006192 PMID:34636445 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G ROBO3 roundabout guidance receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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 IAGP 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 chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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 IAGP ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:20378827 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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 IAGP ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G CGA glycoprotein hormones, alpha polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXB1 homeobox B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011
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 homeobox B1 IAGP ClinVar Annotator: match by term: Hereditary congenital facial paresis 3 ClinVar
OMIM
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011
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 IAGP ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
ClinVar
OMIM
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia
ClinVar PMID:25741868 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:24,294,069...24,359,014
Ensembl chr 8:24,294,069...24,359,014
JBrowse link
G ADAM7-AS1 ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:24,295,814...24,548,618 JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14676054 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28832565 More... NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976
JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
JBrowse link
G ARSI arylsulfatase family member I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307
JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr10:102,854,259...102,864,961
Ensembl chr10:102,854,259...102,864,961
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... RGD:1600602 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
JBrowse link
G CEP63 centrosomal protein 63 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,905,213...113,914,086
JBrowse link
G DDHD1 DDHD domain containing 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
JBrowse link
G DDHD2 DDHD domain containing 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:15,526,848...15,571,733
Ensembl chr 1:15,526,813...15,592,379
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G ENTPD1-AS1 ENTPD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:30564185 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173
JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP 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 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 susceptibility IAGP DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:18414213 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 More... RGD:1624200 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KIF1A kinesin family member 1A IAGP DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... RGD:12911231 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:24482476 PMID:25741868 More... NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G KY kyphoscoliosis peptidase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113
JBrowse link
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 PMID:31402626 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
G MYT1 myelin transcription factor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr20:64,164,452...64,242,253
Ensembl chr20:64,102,394...64,242,253
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NRG1 neuregulin 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:6,466,092...6,520,092
Ensembl chr 1:6,467,122...6,520,074
JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP
EXP
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G PQBP1 polyglutamine binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G RETREG1-AS1 RETREG1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:16,615,926...16,629,969
Ensembl chr 5:16,615,926...16,681,905
JBrowse link
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 More... NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
JBrowse link
G SLC1A5 solute carrier family 1 member 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SPART spartin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:9536098 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin susceptibility IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD
PMID:14564668 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 RGD:1556574 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:1899786 PMID:2779008 PMID:11222789 PMID:11478530 PMID:14985266 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD
ClinVar
PMID:23176824 PMID:25741868 PMID:27406698 PMID:28492532 PMID:30681437 More... NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G USP50 ubiquitin specific peptidase 50 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:50,493,025...50,546,666
Ensembl chr15:50,494,018...50,546,708
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17160902 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
JBrowse link
G WDR48 WD repeat domain 48 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671
JBrowse link
G ZFR zinc finger RNA binding protein IAGP ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:16199547 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G KIF5A kinesin family member 5A ISO
IAGP
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
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
OMIM
RGD
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:28492532 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
OMIM
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
JBrowse link
G TRIM69 tripartite motif containing 69 IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr15:44,736,528...44,767,827
Ensembl chr15:44,728,988...44,767,829
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 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
ClinVar
OMIM
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
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
IAGP
EXP
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
CTD
OMIM
RGD
PMID:10677329 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 More... RGD:10402832 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar
OMIM
PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
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 IAGP ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17
ClinVar Annotator: match by term: Spastic paraplegia 17
OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spastic paraplegia 17
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17
ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
JBrowse link
G SON SON DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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 IAGP ClinVar Annotator: match by term: INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar
OMIM
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158
JBrowse link
G PLP1 proteolipid protein 1 IAGP 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:2479017 PMID:2480601 PMID:7522741 PMID:7531827 More... NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP 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:2479017 PMID:2480601 PMID:7522741 PMID:7531827 PMID:7541901 More... NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953
JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690
JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729
JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032
JBrowse link
G TMSB15B thymosin beta 15B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,919,155...103,974,426
Ensembl chr  X:104,063,871...104,076,212
Ensembl chr  X:104,063,871...104,076,212
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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33624863 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702
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-galactosaminyltransferase 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
ClinVar
OMIM
PMID:16199547 PMID:23746551 PMID:25741868 PMID:28492532 PMID:32214227 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
ClinVar
OMIM
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,468,632...240,561,064
Ensembl chr 2:240,479,422...240,569,209
JBrowse link
G ANO7 anoctamin 7 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976
JBrowse link
G AQP12A aquaporin 12A IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,691,866...240,698,483
Ensembl chr 2:240,691,866...240,698,483
JBrowse link
G AQP12B aquaporin 12B IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,676,418...240,683,810
Ensembl chr 2:240,676,418...240,682,906
JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,426,927...238,452,250
Ensembl chr 2:238,426,742...238,452,250
JBrowse link
G ATG4B autophagy related 4B cysteine peptidase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,637,693...241,673,857
Ensembl chr 2:241,637,213...241,673,857
JBrowse link
G BOK BCL2 family apoptosis regulator BOK IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131
JBrowse link
G CAPN10 calpain 10 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COPS9 COP9 signalosome subunit 9 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,126,548...240,136,347
Ensembl chr 2:240,126,563...240,136,807
JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
JBrowse link
G DTYMK deoxythymidylate kinase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
JBrowse link
G DUSP28 dual specificity phosphatase 28 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256
JBrowse link
G ERFE erythroferrone IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900
JBrowse link
G ESPNL espin like IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,100,340...238,133,287
Ensembl chr 2:238,100,340...238,133,287
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841
JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,776,822...241,804,287
Ensembl chr 2:241,776,822...241,804,287
JBrowse link
G GPC1 glypican 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061
JBrowse link
G HES6 hes family bHLH transcription factor 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,238,267...238,240,038
Ensembl chr 2:238,238,267...238,240,662
JBrowse link
G ILKAP ILK associated serine/threonine phosphatase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,170,402...238,203,695
Ensembl chr 2:238,170,402...238,203,708
JBrowse link
G ING5 inhibitor of growth family member 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,687,020...241,729,478
Ensembl chr 2:241,687,085...241,729,478
JBrowse link
G KIF1A kinesin family member 1A IAGP DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
DNA:missense mutation: :p.A255V (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 More... RGD:12911224, RGD:12911228 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KLHL30 kelch like family member 30 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,138,668...238,152,947
Ensembl chr 2:238,138,668...238,152,947
JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682
JBrowse link
G MAB21L4 mab-21 like 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,886,048...240,896,839
Ensembl chr 2:240,886,048...240,896,889
JBrowse link
G MIR149 microRNA 149 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,456,001...240,456,089
Ensembl chr 2:240,456,001...240,456,089
JBrowse link
G MLPH melanophilin IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322
JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,042,586...241,102,287
Ensembl chr 2:241,072,169...241,102,332
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
JBrowse link
G NEU4 neuraminidase 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413
JBrowse link
G OR6B2 olfactory receptor family 6 subfamily B member 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,029,491...240,030,429
Ensembl chr 2:240,029,491...240,030,429
JBrowse link
G OR6B3 olfactory receptor family 6 subfamily B member 3 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,044,571...240,053,521
Ensembl chr 2:240,045,077...240,047,027
JBrowse link
G OTOS otospiralin IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,139,026...240,140,658
Ensembl chr 2:240,139,026...240,144,562
JBrowse link
G PASK PAS domain containing serine/threonine kinase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264
JBrowse link
G PDCD1 programmed cell death 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PER2 period circadian regulator 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102
JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,149,573...241,183,652
Ensembl chr 2:241,149,576...241,183,652
JBrowse link
G PRLH prolactin releasing hormone IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175
JBrowse link
G PRR21 proline rich 21 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,041,813...240,042,982 JBrowse link
G RAB17 RAB17, member RAS oncogene family IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614
JBrowse link
G RAMP1 receptor activity modifying protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,858,880...237,912,106
Ensembl chr 2:237,858,893...237,912,106
JBrowse link
G RBM44 RNA binding motif protein 44 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,798,779...237,842,805
Ensembl chr 2:237,798,389...237,842,808
JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,568,484...240,581,372
Ensembl chr 2:240,565,804...240,581,372
JBrowse link
G SCLY selenocysteine lyase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,061,001...238,099,413
Ensembl chr 2:238,060,924...238,099,413
JBrowse link
G SEPTIN2 septin 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,315,355...241,354,027
Ensembl chr 2:241,315,100...241,354,027
JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,997,650...241,095,568
Ensembl chr 2:240,998,618...241,095,568
JBrowse link
G STK25 serine/threonine kinase 25 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,492,670...241,509,572
Ensembl chr 2:241,492,670...241,509,730
JBrowse link
G THAP4 THAP domain containing 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,584,405...241,637,576
Ensembl chr 2:241,584,405...241,637,158
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,967,014...238,042,782
Ensembl chr 2:237,966,827...238,042,782
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112841602 Sharpr-MPRA regulatory region 10968 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant ClinVar PMID:18321925 PMID:28492532 NCBI chr 2:86,218,166...86,218,460 JBrowse link
G LOC122787147 Sharpr-MPRA regulatory region 10790 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant ClinVar PMID:18321925 PMID:28492532 NCBI chr 2:86,235,466...86,235,760 JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
ClinVar
OMIM
PMID:9536098 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 More... NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
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 IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 33
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant
ClinVar Annotator: match by term: Spastic tetraparesis
OMIM
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 35
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
ClinVar Annotator: match by term: Spastic paraplegia type 35
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar Annotator: match by term: NTE related motor neuron disorder
ClinVar
OMIM
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 3
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
ClinVar
OMIM
PMID:4684346 PMID:8252041 PMID:9536098 PMID:11685207 PMID:12112092 More... NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr14:50,418,521...50,561,126
Ensembl chr14:50,418,501...50,561,126
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,618,878
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:28492532 NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25741868 PMID:25802881 PMID:29072892 PMID:34008892 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
JBrowse link
G MEMO1 mediator of cell motility 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,867,823...32,011,008
Ensembl chr 2:31,865,060...32,011,230
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G SLC30A6 solute carrier family 30 member 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar
OMIM
PMID:9536098 PMID:10493830 PMID:10610178 PMID:10699187 PMID:10980739 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,628,050...32,821,051
Ensembl chr 2:32,628,032...32,821,051
JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G YIPF4 Yip1 domain family member 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,277,904...32,316,594
Ensembl chr 2:32,277,904...32,316,594
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant ClinVar
OMIM
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 43
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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 IAGP DNA:missense mutation:cds:p.I33M (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
ClinVar Annotator: match by term: Spastic paraplegia 44, autosomal recessive
ClinVar
OMIM
RGD
PMID:19056803 PMID:25741868 PMID:28492532 PMID:19056803 RGD:13208577 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
ClinVar
OMIM
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
ClinVar
OMIM
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 More... NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,905,213...113,914,086
JBrowse link
G SYT6 synaptotagmin 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:114,089,292...114,153,869
Ensembl chr 1:114,089,291...114,153,880
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
JBrowse link
G MIR4656 microRNA 4656 IAGP ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:4,788,565...4,788,639
Ensembl chr 7:4,788,565...4,788,639
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 49
ClinVar
OMIM
PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 More... NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
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 IAGP ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,018
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 51, autosomal recessive
ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar
OMIM
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 More... NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G SPPL2A signal peptide peptidase like 2A IAGP ClinVar Annotator: match by term: Spastic paraplegia 51, autosomal recessive ClinVar PMID:20972249 NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,709
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
ClinVar
OMIM
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 55
ClinVar
OMIM
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 56
ClinVar
OMIM
PMID:615030 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 More... NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 57
ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive
OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP 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 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063
JBrowse link
G LOC112272575 Sharpr-MPRA regulatory region 8478 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,873,245...22,873,539 JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar
OMIM
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NIPA2 NIPA magnesium transporter 2 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
JBrowse link
G TUBGCP5 tubulin gamma complex associated protein 5 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,983,025...23,039,569
Ensembl chr15:22,983,192...23,039,572
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 62
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G ENTPD1-AS1 ENTPD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link