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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 (A4) precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122394 PMID:18762355 PMID:21706413 PMID:22952840 PMID:28915354 More... NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:122883 PMID:910611 PMID:1218179 PMID:1734774 PMID:4319258 More... NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Chrnd cholinergic receptor, nicotinic, delta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18694773 NCBI chr 1:87,118,319...87,127,792
Ensembl chr 1:87,118,329...87,127,792
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: therapeutic CTD PMID:7433326 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23547115 NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
JBrowse link
G Pygm muscle glycogen phosphorylase ISO mRNA, protein:decreased expression:skeletal muscle RGD PMID:8769807 RGD:1599993 NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr 2:126,633,478...126,718,181
Ensembl chr 2:126,633,485...126,718,150
JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr11:82,802,079...82,834,232
Ensembl chr11:82,801,376...82,834,229
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470
JBrowse link
G Opa3 optic atrophy 3 ISO
IEA
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
OMIM:258501
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 7:18,962,314...18,980,742
Ensembl chr 7:18,962,259...18,990,468
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, alpha 2 polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO
IEA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
OMIM:104290 | OMIM:614820
DNA:missense mutations:exon:multiple
CTD
ClinVar
MouseDO
RGD
PMID:22842232 PMID:24033266 PMID:24631656 PMID:24431296 RGD:11576279 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383
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, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar
PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15174025 More... NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383
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, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 OMIM
ClinVar
PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383
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 (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr12:85,346,288...85,386,136
Ensembl chr12:85,346,288...85,386,136
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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:25741868 NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
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 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM
ClinVar
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
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 M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr15:37,924,196...37,961,363
Ensembl chr15:37,924,196...37,961,562
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar
PMID:23352259 PMID:25741868 PMID:28492532 NCBI chr10:62,782,762...62,809,967
Ensembl chr10:62,782,805...62,809,964
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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 OMIM
ClinVar
PMID:25741868 PMID:26094573 PMID:28492532 NCBI chr12:28,699,600...28,709,591
Ensembl chr12:28,699,601...28,709,588
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, mitochondrial ISO 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 chr 8:104,953,323...104,975,224
Ensembl chr 8:104,953,317...104,975,190
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr 6:83,457,196...83,483,951
Ensembl chr 6:83,457,199...83,483,951
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 topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29290614 NCBI chr11:60,629,035...60,668,191
Ensembl chr11:60,630,884...60,668,191
JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459
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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 1:17,202,028...17,234,495
Ensembl chr 1:17,215,586...17,234,495
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, proximal myopathy, and sudden death ClinVar PMID:8265770 PMID:8786060 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar PMID:29398297 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Polg polymerase (DNA directed), gamma ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD
RGD
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 More... RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:24741716 PMID:28492532 NCBI chr15:37,924,196...37,961,363
Ensembl chr15:37,924,196...37,961,562
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar
RGD
PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar
RGD
PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 More... RGD:1600544 NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM
ClinVar
PMID:25741868 PMID:29016863 NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819
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 IEA
ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
MouseDO
ClinVar
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584
JBrowse link
G Tubb3 tubulin, beta 3 class III IEA OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754
JBrowse link
congenital fibrosis of the extraocular muscles 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
ClinVar
OMIM
RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151
JBrowse link
congenital fibrosis of the extraocular muscles 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 OMIM
ClinVar
PMID:11600883 NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933
JBrowse link
congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy OMIM
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754
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 ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 3:129,973,992...130,393,533
Ensembl chr 3:129,925,150...130,393,526
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, endothelial cell ISO mRNA:decreased expression:pyloric antrum (rat) RGD PMID:29071981 RGD:13446417 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome OMIM
ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254
JBrowse link
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr10:58,091,217...58,141,421
Ensembl chr10:58,091,319...58,141,421
JBrowse link
G Lims1 LIM and senescent cell antigen-like domains 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr10:58,159,164...58,260,513
Ensembl chr10:58,159,288...58,260,513
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A OMIM
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062
JBrowse link
G Sult1c1 sulfotransferase family, cytosolic, 1C, member 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr17:54,268,643...54,297,659
Ensembl chr17:54,268,643...54,297,702
JBrowse link
G Sult1c2 sulfotransferase family, cytosolic, 1C, member 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr17:54,136,665...54,152,986
Ensembl chr17:54,136,665...54,153,367
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 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar Annotator: match by term: HMN VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B OMIM
ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 More... NCBI chr 6:83,142,702...83,177,100
Ensembl chr 6:83,142,902...83,177,099
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 4:152,156,890...152,199,861
Ensembl chr 4:152,156,955...152,199,857
JBrowse link
G Scn11a sodium channel, voltage-gated, type XI, alpha ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238 NCBI chr 9:119,582,829...119,654,522
Ensembl chr 9:119,582,825...119,654,522
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586 PMID:20460441 PMID:21336783 PMID:22702953 PMID:25900305 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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 Atp5g3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9) ISO ClinVar Annotator: match by term: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA OMIM
ClinVar
PMID:19006192 PMID:34636445 NCBI chr 2:73,738,791...73,742,793
Ensembl chr 2:73,738,791...73,741,670
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 IEP associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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 deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
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 deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
JBrowse link
gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378827 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 More... NCBI chr 7:24,677,592...24,705,502
Ensembl chr 7:24,677,592...24,705,383
JBrowse link
G Cga glycoprotein hormones, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr13:38,335,270...38,382,553
Ensembl chr13:38,335,270...38,382,553
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082
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 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082
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 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending OMIM
ClinVar
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 7:37,882,642...37,896,992
Ensembl chr 7:37,882,642...37,896,992
JBrowse link
G Abhd16a abhydrolase domain containing 16A ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr17:35,308,210...35,321,963
Ensembl chr17:35,308,239...35,321,963
JBrowse link
G Adam28 a disintegrin and metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr14:68,842,447...68,893,338
Ensembl chr14:68,843,476...68,893,291
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14676054 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 More... NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 3:107,981,375...107,993,982
Ensembl chr 3:107,981,378...107,993,967
JBrowse link
G Ap4b1 adaptor-related protein complex AP-4, beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 3:103,716,375...103,729,341
Ensembl chr 3:103,716,889...103,745,964
Ensembl chr 3:103,716,889...103,745,964
JBrowse link
G Ap4e1 adaptor-related protein complex AP-4, epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr 2:126,850,600...126,911,734
Ensembl chr 2:126,850,637...126,909,829
JBrowse link
G Ap4m1 adaptor-related protein complex AP-4, mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28832565 More... NCBI chr 5:138,170,283...138,178,691
Ensembl chr 5:138,170,264...138,178,691
JBrowse link
G Ap4s1 adaptor-related protein complex AP-4, sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr12:51,708,545...51,785,716
Ensembl chr12:51,737,816...51,791,569
JBrowse link
G Ap5b1 adaptor-related protein complex 5, beta 1 subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr19:5,610,278...5,621,290
Ensembl chr19:5,618,053...5,621,289
JBrowse link
G Ap5z1 adaptor-related protein complex 5, zeta 1 subunit ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... RGD:9684952 NCBI chr 5:142,448,960...142,464,471
Ensembl chr 5:142,449,699...142,464,465
JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr10:127,157,829...127,165,816
Ensembl chr10:127,157,833...127,165,812
JBrowse link
G Arsi arylsulfatase i ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr18:61,045,063...61,051,633
Ensembl chr18:61,044,852...61,051,633
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr13:49,495,025...49,540,502
Ensembl chr13:49,495,061...49,540,502
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 IEA MouseDO NCBI chr19:46,678,345...46,691,821
Ensembl chr19:46,678,345...46,691,821
JBrowse link
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ISO 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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
JBrowse link
G Cct5 chaperonin containing Tcp1, subunit 5 (epsilon) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr15:31,590,946...31,601,992
Ensembl chr15:31,590,946...31,601,950
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 9:102,463,777...102,503,767
Ensembl chr 9:102,461,787...102,503,733
JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 3:131,084,140...131,097,806
Ensembl chr 3:131,082,090...131,096,876
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 3:18,126,108...18,298,054
Ensembl chr 3:18,126,114...18,297,502
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760
JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr14:45,830,628...45,895,600
Ensembl chr14:45,825,924...45,895,600
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr 8:26,215,351...26,244,502
Ensembl chr 8:26,215,373...26,244,624
JBrowse link
G Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 4:141,487,498...141,518,255
Ensembl chr 4:141,487,500...141,518,242
JBrowse link
G Eif3j1 eukaryotic translation initiation factor 3, subunit J1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 2:121,859,061...121,884,113
Ensembl chr 2:121,859,027...121,887,079
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr19:44,023,382...44,058,580
Ensembl chr19:44,023,383...44,058,224
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:30564185 NCBI chr 8:27,513,399...27,529,465
Ensembl chr 8:27,513,289...27,530,356
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25741868 More... NCBI chr 8:112,071,770...112,120,453
Ensembl chr 8:112,071,767...112,120,456
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr19:7,064,829...7,143,548
Ensembl chr19:7,069,366...7,083,094
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:70,391,644...70,432,358
Ensembl chr 2:70,383,416...70,432,358
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25326637 More... RGD:1624200, RGD:1624200 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
JBrowse link
G Kif1a kinesin family member 1A ISO DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... RGD:12911231 NCBI chr 1:92,943,177...93,029,760
Ensembl chr 1:92,943,186...93,029,673
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:24482476 PMID:25741868 More... NCBI chr11:70,591,170...70,622,796
Ensembl chr11:70,591,374...70,622,790
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 9:102,382,954...102,423,438
Ensembl chr 9:102,382,949...102,423,438
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr19:7,034,065...7,175,427
Ensembl chr19:7,034,178...7,175,422
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 PMID:31402626 NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
JBrowse link
G Mars1 methionine-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr10:127,132,090...127,147,655
Ensembl chr10:127,132,090...127,147,655
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr11:106,641,472...106,659,620
Ensembl chr11:106,642,052...106,659,620
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,466,152...124,479,915
Ensembl chr 5:124,466,152...124,479,907
JBrowse link
G Myt1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 2:181,405,099...181,469,579
Ensembl chr 2:181,405,125...181,469,590
JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702
JBrowse link
G Nrg1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592
JBrowse link
G Pgap1 post-GPI attachment to proteins 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:54,512,159...54,596,843
Ensembl chr 1:54,512,153...54,596,843
JBrowse link
G Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 4:152,156,890...152,199,861
Ensembl chr 4:152,156,955...152,199,857
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:135,720,897...135,739,331
Ensembl chr  X:135,723,420...135,740,482
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr11:106,659,030...106,670,363
Ensembl chr11:106,659,079...106,670,363
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:7,760,758...7,765,508
Ensembl chr  X:7,760,758...7,765,508
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:135,758,896...135,769,305
Ensembl chr  X:135,758,896...135,769,504
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 More... NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr15:25,840,795...25,973,782
Ensembl chr15:25,843,266...25,973,773
JBrowse link
G Rtn2 reticulon 2 (Z-band associated protein) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:19,016,549...19,030,089
Ensembl chr 7:19,016,549...19,030,085
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 More... NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483
JBrowse link
G Slc16a2 solute carrier family 16 (monocarboxylic acid transporters), member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 More... NCBI chr  X:102,741,020...102,865,594
Ensembl chr  X:102,741,020...102,865,589
JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199
JBrowse link
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110
JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr 2:121,884,007...121,949,915
Ensembl chr 2:121,884,001...121,948,867
JBrowse link
G Spg20 spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:55,019,500...55,044,753
Ensembl chr 3:55,019,529...55,044,743
JBrowse link
G Spg21 SPG21, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD
PMID:14564668 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 RGD:1556574 NCBI chr 9:65,360,571...65,395,752
Ensembl chr 9:65,368,229...65,395,752
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
CTD
ClinVar
PMID:23176824 PMID:25741868 PMID:27406698 PMID:28492532 PMID:30681437 More... NCBI chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 2:126,602,970...126,625,380
Ensembl chr 2:126,551,016...126,625,390
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 2:126,549,123...126,601,234
Ensembl chr 2:126,549,248...126,601,217
JBrowse link
G Vps37a vacuolar protein sorting 37A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17160902 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016
JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 9:119,723,943...119,755,652
Ensembl chr 9:119,723,944...119,755,653
JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr15:12,117,649...12,185,535
Ensembl chr15:12,117,917...12,185,769
JBrowse link
G Zfyve26 zinc finger, FYVE domain containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:16199547 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:27,513,399...27,529,465
Ensembl chr 8:27,513,289...27,530,356
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
JBrowse link
G Kif5a kinesin family member 5A ISO
IMP
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061, RGD:12793060 NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
JBrowse link
G Rtn2 reticulon 2 (Z-band associated protein) ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:19,016,549...19,030,089
Ensembl chr 7:19,016,549...19,030,085
JBrowse link
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016
JBrowse link
G Zfyve27 zinc finger, FYVE domain containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr19:42,159,006...42,183,032
Ensembl chr19:42,152,390...42,183,029
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G Eif3j1 eukaryotic translation initiation factor 3, subunit J1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 2:121,859,061...121,884,113
Ensembl chr 2:121,859,027...121,887,079
JBrowse link
G Patl2 protein associated with topoisomerase II homolog 2 (yeast) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:28492532 NCBI chr 2:121,950,589...122,016,670
Ensembl chr 2:121,950,589...122,016,670
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
OMIM:604360
OMIM
ClinVar
MouseDO
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr 2:121,884,007...121,949,915
Ensembl chr 2:121,884,001...121,948,867
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 2:61,633,228...61,644,458
Ensembl chr 2:61,633,274...61,644,458
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 2:121,991,189...122,009,503
Ensembl chr 2:121,991,181...122,009,508
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 (Z-band associated protein) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 OMIM
ClinVar
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr 7:19,016,549...19,030,089
Ensembl chr 7:19,016,549...19,030,085
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 1 (chaperonin) ISO
IEA
IMP
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
OMIM:605280
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:10677329 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 More... RGD:10402832 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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 domain containing 26 ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration
OMIM:270700
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
JBrowse link
G Son Son DNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 OMIM
ClinVar
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr 8:27,513,399...27,529,465
Ensembl chr 8:27,513,289...27,530,356
JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:135,633,691...135,644,435
Ensembl chr  X:135,633,691...135,644,439
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
OMIM:312920
OMIM
ClinVar
MouseDO
PMID:1720927 PMID:2479017 PMID:2480601 PMID:7522741 PMID:7531827 More... NCBI chr  X:135,720,897...135,739,331
Ensembl chr  X:135,723,420...135,740,482
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO 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:135,758,896...135,769,305
Ensembl chr  X:135,758,896...135,769,504
JBrowse link
G Slc22a13b solute carrier family 22 (organic cation transporter), member 13b ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr 9:119,049,557...119,060,758
Ensembl chr 9:119,049,554...119,060,758
JBrowse link
G Tceal1 transcription elongation factor A (SII)-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:135,608,731...135,610,622
Ensembl chr  X:135,608,731...135,612,227
JBrowse link
G Tceal3 transcription elongation factor A (SII)-like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:135,491,586...135,569,127
Ensembl chr  X:135,491,591...135,569,127
JBrowse link
G Tmsb15b1 thymosin beta 15b1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:135,874,771...135,877,623
Ensembl chr  X:135,874,771...135,877,623
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33624863 NCBI chr 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 OMIM
ClinVar
PMID:16199547 PMID:23746551 PMID:25741868 PMID:28492532 PMID:32214227 NCBI chr10:127,001,025...127,008,209
Ensembl chr10:127,001,094...127,008,199
JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 OMIM
ClinVar
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr14:45,830,628...45,895,600
Ensembl chr14:45,825,924...45,895,600
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine-glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,062,962...93,073,143
Ensembl chr 1:93,062,962...93,073,143
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,787,541...92,830,708
Ensembl chr 1:92,787,525...92,830,628
JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,301,518...93,332,026
Ensembl chr 1:93,301,652...93,332,025
JBrowse link
G Aqp12 aquaporin 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,934,056...92,939,991
Ensembl chr 1:92,934,056...92,939,991
JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,467,725...91,487,312
Ensembl chr 1:91,468,266...91,487,311
JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,682,627...93,717,328
Ensembl chr 1:93,679,222...93,718,332
JBrowse link
G Bok BCL2-related ovarian killer ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,613,297...93,623,492
Ensembl chr 1:93,613,382...93,623,486
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,564,867...92,569,707
Ensembl chr 1:92,564,867...92,569,707
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,752,539...93,781,579
Ensembl chr 1:93,752,631...93,780,070
JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,720,298...93,730,246
Ensembl chr 1:93,720,298...93,729,656
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,834,711...92,836,342
Ensembl chr 1:92,834,703...92,836,157
JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,293,033...91,301,939
Ensembl chr 1:91,294,152...91,301,939
JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,249,797...91,276,025
Ensembl chr 1:91,249,797...91,276,028
JBrowse link
G Farp2 FERM, RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,439,826...93,549,698
Ensembl chr 1:93,439,801...93,549,698
JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,789,066...93,804,216
Ensembl chr 1:93,789,028...93,804,216
JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,759,367...92,787,933
Ensembl chr 1:92,759,367...92,788,501
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,875,774...92,914,113
Ensembl chr 1:92,878,587...92,914,113
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
JBrowse link
G Hdlbp high density lipoprotein (HDL) binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,333,662...93,406,639
Ensembl chr 1:93,333,662...93,406,537
JBrowse link
G Hes6 hairy and enhancer of split 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,339,204...91,342,901
Ensembl chr 1:91,339,205...91,341,760
JBrowse link
G Ilkap integrin-linked kinase-associated serine/threonine phosphatase 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,301,568...91,326,566
Ensembl chr 1:91,301,583...91,326,537
JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,731,648...93,749,823
Ensembl chr 1:93,731,687...93,749,823
JBrowse link
G Kif1a kinesin family member 1A ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
OMIM:610357
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
OMIM
ClinVar
MouseDO
RGD
PMID:9536098 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 More... RGD:12911228, RGD:12911224 NCBI chr 1:92,943,177...93,029,760
Ensembl chr 1:92,943,186...93,029,673
JBrowse link
G Klhl30 kelch-like 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,278,795...91,290,126
Ensembl chr 1:91,278,738...91,290,138
JBrowse link
G Lrrfip1 leucine rich repeat (in FLII) interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:90,924,652...91,056,666
Ensembl chr 1:90,926,459...91,056,666
JBrowse link
G Mab21l4 mab-21-like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,079,076...93,088,679
Ensembl chr 1:93,079,071...93,088,670
JBrowse link
G Mir149 microRNA 149 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,778,100...92,778,165
Ensembl chr 1:92,778,100...92,778,165
JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864
JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,228,927...93,233,601
Ensembl chr 1:93,226,933...93,233,637
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,367,208...92,401,547
Ensembl chr 1:92,366,732...92,401,582
JBrowse link
G Neu4 sialidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,948,215...93,956,056
Ensembl chr 1:93,948,173...93,956,056
JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,407,403...92,408,341
Ensembl chr 1:92,403,647...92,412,835
JBrowse link
G Or6b3 olfactory receptor family 6 subfamily B member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,438,770...92,446,237
Ensembl chr 1:92,434,088...92,446,383
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,571,940...92,576,630
Ensembl chr 1:92,571,940...92,576,563
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,237,159...93,271,244
Ensembl chr 1:93,236,492...93,271,204
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Per2 period circadian clock 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,343,699...91,387,072
Ensembl chr 1:91,343,704...91,387,046
JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,271,350...93,295,344
Ensembl chr 1:93,270,576...93,301,211
JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:90,879,431...90,881,881
Ensembl chr 1:90,880,830...90,881,749
JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:90,885,855...90,897,395
Ensembl chr 1:90,885,855...90,897,383
JBrowse link
G Ramp1 receptor (calcitonin) activity modifying protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,107,544...91,152,918
Ensembl chr 1:91,107,544...91,152,918
JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,072,695...91,098,521
Ensembl chr 1:91,072,811...91,098,517
JBrowse link
G Rnpepl1 arginyl aminopeptidase (aminopeptidase B)-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:92,837,697...92,848,307
Ensembl chr 1:92,838,505...92,852,106
JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,226,017...91,248,802
Ensembl chr 1:91,226,060...91,248,797
JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,406,671...93,437,455
Ensembl chr 1:93,406,686...93,437,982
Ensembl chr 1:93,406,686...93,437,982
JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,163,518...93,228,787
Ensembl chr 1:93,163,563...93,228,787
JBrowse link
G Stk25 serine/threonine kinase 25 (yeast) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,548,473...93,581,937
Ensembl chr 1:93,547,473...93,586,381
JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:93,633,113...93,682,560
Ensembl chr 1:93,629,657...93,682,586
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,422,311...91,457,029
Ensembl chr 1:91,422,369...91,457,029
JBrowse link
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750
JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 1:91,177,412...91,214,243
Ensembl chr 1:91,178,026...91,218,059
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
OMIM:610250
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 More... NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
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 AP-4, mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr 5:138,170,283...138,178,691
Ensembl chr 5:138,170,264...138,178,691
JBrowse link
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
JBrowse link
G Zfyve27 zinc finger, FYVE domain containing 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis OMIM
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 NCBI chr19:42,159,006...42,183,032
Ensembl chr19:42,152,390...42,183,029
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
OMIM:612319
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr 8:112,071,770...112,120,453
Ensembl chr 8:112,071,767...112,120,456
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 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A OMIM
ClinVar
PMID:4684346 PMID:8252041 PMID:9536098 PMID:11685207 PMID:12112092 More... NCBI chr12:69,939,879...70,010,859
Ensembl chr12:69,939,388...70,013,191
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr12:69,850,531...69,939,937
Ensembl chr12:69,850,524...69,939,974
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr17:74,835,247...75,010,351
Ensembl chr17:74,835,290...75,010,351
JBrowse link
G Dpy30 dpy-30, histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr17:74,606,469...74,630,939
Ensembl chr17:74,606,469...74,630,939
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 PMID:25802881 PMID:29072892 PMID:34008892 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr17:75,312,475...75,699,507
Ensembl chr17:75,312,563...75,699,507
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr17:74,493,759...74,602,677
Ensembl chr17:74,506,031...74,602,516
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr17:74,733,254...74,766,140
Ensembl chr17:74,732,433...74,766,137
JBrowse link
G Slc30a6 solute carrier family 30 (zinc transporter), member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr17:74,702,573...74,731,225
Ensembl chr17:74,702,603...74,731,216
JBrowse link
G Spast spastin ISO
IEA
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
OMIM:182601
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr17:74,321,886...74,354,855
Ensembl chr17:74,323,950...74,354,911
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr17:75,024,730...75,170,565
Ensembl chr17:75,024,727...75,170,565
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr17:74,190,890...74,257,369
Ensembl chr17:74,190,890...74,257,191
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr17:74,796,488...74,807,272
Ensembl chr17:74,796,488...74,807,272
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 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 OMIM
ClinVar
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 7:37,882,642...37,896,992
Ensembl chr 7:37,882,642...37,896,992
JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
DNA:missense mutation:cds:p.I33M (human)
OMIM
ClinVar
RGD
PMID:19056803 PMID:25741868 PMID:28492532 PMID:19056803 RGD:13208577 NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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 M2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 OMIM
ClinVar
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 OMIM
ClinVar
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 More... NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873
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 AP-4, beta 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 5 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 3:103,716,375...103,729,341
Ensembl chr 3:103,716,889...103,745,964
Ensembl chr 3:103,716,889...103,745,964
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760
JBrowse link
G Syt6 synaptotagmin VI ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:28492532 NCBI chr 3:103,482,561...103,552,883
Ensembl chr 3:103,482,547...103,552,885
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, zeta 1 subunit ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
OMIM:613647
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 5:142,448,960...142,464,471
Ensembl chr 5:142,449,699...142,464,465
JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr12:110,942,854...110,945,516
Ensembl chr12:110,941,787...110,945,474
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 More... NCBI chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828
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 (gamma) ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 NCBI chr19:53,128,874...53,235,757
Ensembl chr19:53,128,874...53,235,830
JBrowse link
G Ap4m1 adaptor-related protein complex AP-4, mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr 5:138,170,283...138,178,691
Ensembl chr 5:138,170,264...138,178,691
JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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 AP-4, epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 More... NCBI chr 2:126,850,600...126,911,734
Ensembl chr 2:126,850,637...126,909,829
JBrowse link
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155
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 AP-4, sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr12:51,708,545...51,785,716
Ensembl chr12:51,737,816...51,791,569
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps37a vacuolar protein sorting 37A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd2 DDHD domain containing 2 ISO
IEA
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
OMIM:615033
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr 8:26,215,351...26,244,502
Ensembl chr 8:26,215,373...26,244,624
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 OMIM
ClinVar
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr 5:124,466,152...124,479,915
Ensembl chr 5:124,466,152...124,479,907
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar
PMID:615030 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 More... NCBI chr 3:131,084,140...131,097,806
Ensembl chr 3:131,082,090...131,096,876
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg Trk-fused gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr16:56,510,692...56,541,801
Ensembl chr16:56,510,695...56,537,813
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr 7:37,882,642...37,896,992
Ensembl chr 7:37,882,642...37,896,992
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 3:131,084,140...131,097,806
Ensembl chr 3:131,082,090...131,096,876
JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 3:18,126,108...18,298,054
Ensembl chr 3:18,126,114...18,297,502
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350
JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 OMIM
ClinVar
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702
JBrowse link
G Nipa2 non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 7:55,581,014...55,612,241
Ensembl chr 7:55,581,035...55,612,224
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425
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 6 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 7:117,718,113...117,728,848
Ensembl chr 7:117,718,114...117,728,885
JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr19:44,023,382...44,058,580
Ensembl chr19:44,023,383...44,058,224
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 3:107,981,375...107,993,982
Ensembl chr 3:107,981,378...107,993,967
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar PMID:28492532 NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
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 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfate sulfatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
JBrowse link
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit IEA OMIM:607259 MouseDO NCBI chr 8:123,792,247...123,824,499
Ensembl chr 8:123,789,681...123,824,499
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 9:20,339,614...20,371,465
Ensembl chr 9:20,339,745...20,371,458
JBrowse link
hereditary spastic paraplegia 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24388663 PMID:25741868 PMID:28492532 NCBI chr18:34,973,642...34,980,516
Ensembl chr18:34,973,642...34,980,516
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 More... NCBI chr 7:44,607,907...44,624,304
Ensembl chr 7:44,608,796...44,624,275
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 IBA57 homolog, iron-sulfur cluster assembly ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25609768 PMID:25741868 PMID:28492532 More... NCBI chr11:59,046,194...59,055,391
Ensembl chr11:59,046,195...59,054,565
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:28492532 More... NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanine-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 OMIM
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr13:36,301,373...36,721,569
Ensembl chr13:36,301,395...36,910,254
JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 OMIM
ClinVar
PMID:12169656 PMID:16964263 PMID:17485642 PMID:18075584 PMID:18075585 More... NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
JBrowse link
hereditary spastic paraplegia 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome OMIM
ClinVar
PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 More... NCBI chr 5:66,833,464...66,844,577
Ensembl chr 5:66,833,434...66,844,577
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr16:16,130,092...16,176,902
Ensembl chr16:16,130,094...16,176,823
JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 OMIM
ClinVar
PMID:9536098 PMID:17160902 PMID:17576681 PMID:20833645 PMID:23455931 More... NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016
JBrowse link
hereditary spastic paraplegia 80 term browser