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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Paralysis
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Accession:DOID:9005246 term browser browse the term
Definition:A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Synonyms:exact_synonym: Palsies;   Palsy;   Paralyses;   Plegia;   Plegias;   Todd Paralysis;   Todd's Paralysis;   Todds Paralysis
 primary_id: MESH:D010243;   RDO:0002342
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122394 PMID:18762355 PMID:21706413 PMID:22952840 PMID:28915354 More... NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:122883 PMID:910611 PMID:1218179 PMID:1734774 PMID:4319258 More... NCBI chr13:104,946,732...105,007,568 JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18694773 NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,058,544
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:7433326 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23547115 NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,508...22,612,761
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO mRNA, protein:decreased expression:skeletal muscle RGD PMID:8769807 RGD:1599993 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,391,064...7,421,261
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,115...121,250,224
JBrowse link
G UNC45B unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr12:39,997,254...40,031,368
Ensembl chr12:39,994,190...40,031,349
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 chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,278
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 OMIM
ClinVar
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 6:51,917,956...51,967,624 JBrowse link
alternating hemiplegia of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood ClinVar PMID:24033266 NCBI chr 6:49,905,851...49,927,437 JBrowse link
Alternating Hemiplegia of Childhood 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar
PMID:9536098 PMID:11439943 PMID:12023326 PMID:14667076 PMID:15174025 More... NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr 6:49,905,851...49,927,437 JBrowse link
Alternating Hemiplegia of Childhood 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 OMIM
ClinVar
PMID:8733056 PMID:9536098 PMID:11061257 PMID:12112218 PMID:15260953 More... NCBI chr 6:49,905,851...49,927,437 JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
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 chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
JBrowse link
G POLG2 DNA polymerase 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 chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
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 chr14:71,550,405...71,607,067
Ensembl chr14:71,549,815...71,651,089
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 chr 3:131,268,908...131,277,072 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM
ClinVar
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,693
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 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29290614 NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,731...60,469,040
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 chr18:50,563,130...50,566,857 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 4:63,970,939...64,328,107
Ensembl chr 4:63,970,511...64,328,105
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 4:61,577,413...61,596,106
Ensembl chr 4:61,577,416...61,596,303
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 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
RGD
CTD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:24741716 PMID:28492532 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
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
RGD
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
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 chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,665
JBrowse link
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL ClinVar PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,888,999...71,029,809
JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
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 ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b OMIM
ClinVar
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,888,999...71,029,809
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 9:6,808,144...6,831,636
Ensembl chr 9:6,808,624...6,812,379
JBrowse link
congenital fibrosis of the extraocular muscles 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL25A1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 OMIM
ClinVar
PMID:25500261 NCBI chr 8:112,866,597...113,335,765
Ensembl chr 8:112,867,073...113,334,115
JBrowse link
Diabetic Gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:pyloric antrum (rat) RGD PMID:29071981 RGD:13446417 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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 chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,706...47,523,536
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,340...47,759,000
JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,607,737...47,704,921 JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,358...47,601,379
JBrowse link
G LOC100623441 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,765,022...47,777,178 JBrowse link
G LOC100623541 sulfotransferase 1C2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
JBrowse link
G LOC100623656 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 3:47,838,671...47,864,646 JBrowse link
G SLC5A7 solute carrier family 5 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 chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,307...48,022,503
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: 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 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025 PMID:28492532 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,990,750...8,997,300
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649 PMID:17564964 NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,316,819...67,353,106
JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29213238 NCBI chr13:23,602,378...23,692,281
Ensembl chr13:23,602,977...23,692,220
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,750
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,482...150,248,174
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 chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,582
JBrowse link
DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 ISO ClinVar Annotator: match by term: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA OMIM
ClinVar
PMID:19006192 PMID:34636445 NCBI chr15:81,091,037...81,094,297
Ensembl chr15:81,083,960...81,094,488
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,581...52,081,629
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 9:52,065,043...52,081,764
Ensembl chr 9:52,065,581...52,081,629
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
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
hemiplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 More... NCBI chr 6:49,905,851...49,927,437 JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
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 chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
G LOC100515171 sodium channel protein type 2 subunit alpha ISO ClinVar Annotator: match by term: Hemiplegia/hemiparesis ClinVar PMID:25741868 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,739...71,999,212
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
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 chr12:24,784,953...24,786,377
Ensembl chr12:24,784,953...24,786,377
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 chr12:24,784,953...24,786,377
Ensembl chr12:24,784,953...24,786,377
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending OMIM
ClinVar
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,718...105,401,108
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 7:23,800,932...23,814,920
Ensembl chr 7:23,800,935...23,814,948
JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr14:8,375,169...8,438,622
Ensembl chr14:8,375,212...8,438,615
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14676054 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 More... NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,718...105,401,108
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 4:110,493,490...110,505,123
Ensembl chr 4:110,493,495...110,505,138
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 4:106,656,632...106,668,252
Ensembl chr 4:106,656,717...106,683,099
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,807,328...120,946,052
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit 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 3:8,013,701...8,017,701
Ensembl chr 3:8,013,712...8,025,925
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,419,211...68,471,658
JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:6,538,784...6,551,337
Ensembl chr 2:6,548,027...6,553,808
JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 More... NCBI chr 3:3,622,684...3,642,370
Ensembl chr 3:3,622,696...3,642,415
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,336...22,762,049
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 chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,469...180,405,585
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 chr 3:42,393,270...42,456,821
Ensembl chr 3:42,368,445...42,456,791
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,888
JBrowse link
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 More... NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,814,494...39,825,001
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr16:72,211,452...72,223,202
Ensembl chr16:72,208,012...72,223,114
JBrowse link
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr13:75,605,622...75,707,087
Ensembl chr13:75,605,689...75,707,103
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,890,149...114,053,352
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
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 4:106,646,591...106,656,490
Ensembl chr 4:106,646,010...106,656,452
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 chr 1:182,667,102...182,754,526
Ensembl chr 1:182,667,406...182,754,208
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 chr15:48,239,932...48,292,413
Ensembl chr15:48,238,740...48,292,181
JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:74,732,130...74,771,404
Ensembl chr 6:74,732,169...74,774,311
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,199...127,019,148
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,506,052
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 chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536
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 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,821
JBrowse link
G FANCI FA 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 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:7,971,782...8,052,572
Ensembl chr 2:7,976,275...8,052,352
JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
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 chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
RGD
ClinVar
PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25326637 More... RGD:1624200 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G KIF1A kinesin family member 1A 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:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,626...139,694,826
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 chr12:51,899,762...51,924,465
Ensembl chr12:51,897,763...51,924,437
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,506...22,867,029
JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986
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:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:179,907,857...180,069,146
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:7,939,125...8,087,656
Ensembl chr 2:7,939,044...8,087,697
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 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,929
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,751,921...22,785,928
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,577,168...71,613,291
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
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 chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899
JBrowse link
G MYT1 myelin transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr17:62,955,052...63,020,652
Ensembl chr17:62,979,350...63,014,697
JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,858...32,260,006
JBrowse link
G NRG1 neuregulin 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,627,334...53,688,332
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:100,733,552...100,820,603
Ensembl chr15:100,733,555...100,820,585
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,316,819...67,353,106
JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,665,925...84,695,533
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,166...71,602,818
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,410...42,981,725
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:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990
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 3:58,436,319...58,558,943
Ensembl chr 3:58,435,510...58,558,939
JBrowse link
G RETREG1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr16:5,726,493...5,879,461
Ensembl chr16:5,726,494...5,879,515
JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,976...51,964,488
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
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 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,750
JBrowse link
G SLC16A2 solute carrier family 16 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:59,748,685...59,861,018
Ensembl chr  X:59,748,741...59,861,018
JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,432...52,661,459
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156
JBrowse link
G SPART spartin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:12,313,211...12,346,226
Ensembl chr11:12,313,210...12,365,426
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 chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,810...107,508,927
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar 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 1:126,890,464...126,998,014
Ensembl chr 1:126,890,892...126,998,059
JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia RGD
ClinVar
PMID:14564668 PMID:25741868 PMID:26467025 PMID:28492532 RGD:1556574 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:106,970,656...107,036,347
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:1899786 PMID:2779008 PMID:11222789 PMID:11478530 PMID:14985266 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar PMID:25741868 PMID:27406698 PMID:28492532 PMID:30681437 PMID:32209221 More...
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 1:121,272,977...121,307,029
Ensembl chr 1:121,273,062...121,307,107
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,030...121,376,099
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,642...4,988,082
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 chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,148...14,668,327
JBrowse link
G WDR48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr13:23,735,566...23,786,312
Ensembl chr13:23,735,584...23,786,309
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 chr16:18,561,909...18,656,341
Ensembl chr16:18,560,274...18,656,294
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:16199547 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 More... NCBI chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,451...91,591,047
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,469...180,405,585
JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,506...22,867,029
JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,858...32,260,006
JBrowse link
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,435,510...58,558,939
JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,976...51,964,488
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,810...107,508,927
JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,148...14,668,327
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr14:109,088,758...109,119,854
Ensembl chr14:109,088,820...109,163,728
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 1:126,865,767...126,878,501
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,199...127,019,148
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,067
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO 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
ClinVar
PMID:2223744 PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 More... NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,890,892...126,998,059
JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:68,208,884...68,222,993
Ensembl chr15:68,213,562...68,222,991
JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 1:126,775,856...126,788,628
Ensembl chr 1:126,775,531...126,816,846
JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 OMIM
ClinVar
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,976...51,964,488
JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM
ClinVar
PMID:10677329 PMID:17420924 PMID:18414213 PMID:22552817 PMID:24033266 More... NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration OMIM
ClinVar
PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 More... NCBI chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,451...91,591,047
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,888
JBrowse link
G SON SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr13:197,162,075...197,193,417
Ensembl chr13:197,162,114...197,194,078
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 chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536
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:84,553,770...84,566,304
Ensembl chr  X:84,552,705...84,569,030
JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED OMIM
ClinVar
PMID:1720927 PMID:2479017 PMID:2480601 PMID:7522741 PMID:7531827 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,665,925...84,695,533
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:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990
JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,518,623...84,521,016
JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,485,887...84,490,011 JBrowse link
G TCEAL4 transcription elongation factor A like 4 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:84,475,232...84,477,380 JBrowse link
G TMSB15B thymosin beta 15B 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:84,815,565...84,871,809 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 9:65,833,050...65,892,024
Ensembl chr 9:65,833,052...65,891,999
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 OMIM
ClinVar
PMID:16199547 PMID:23746551 PMID:25741868 PMID:28492532 PMID:32214227 NCBI chr 5:22,889,654...22,897,386
Ensembl chr 5:22,889,656...22,897,508
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 chr 1:182,667,102...182,754,526
Ensembl chr 1:182,667,406...182,754,208
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736
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 chr15:139,485,294...139,531,861 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 chr15:139,951,191...139,956,575 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 chr15:139,600,775...139,606,712 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 chr15:137,931,419...137,952,050
Ensembl chr15:137,931,239...137,952,050
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 chr15:140,223,903...140,245,590
Ensembl chr15:140,223,903...140,249,851
JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,124
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 chr15:139,557,643...139,568,764
Ensembl chr15:139,557,666...139,570,181
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
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 chr15:139,260,471...139,264,252
Ensembl chr15:139,260,476...139,264,212
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 chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,322,624
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 chr15:140,308,612...140,322,624 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 chr15:140,248,071...140,255,803
Ensembl chr15:140,248,068...140,255,892
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 chr15:139,536,828...139,539,448
Ensembl chr15:139,537,324...139,539,438
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 chr15:137,728,507...137,738,687
Ensembl chr15:137,728,469...137,738,682
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 chr15:137,674,867...137,706,968
Ensembl chr15:137,675,710...137,706,662
JBrowse link
G FARP2 FERM, ARH/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 chr15:140,060,304...140,144,059
Ensembl chr15:140,060,361...140,144,038
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 chr15:139,457,866...139,483,704
Ensembl chr15:139,457,669...139,484,671
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 chr15:139,571,093...139,591,638
Ensembl chr15:139,571,086...139,591,632
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 chr15:138,378,237...138,657,266
Ensembl chr15:138,381,627...138,614,301
JBrowse link
G HDLBP high density lipoprotein 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 chr15:139,957,703...140,025,336 JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,785,808...137,787,689
Ensembl chr15:137,785,808...137,787,694
JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,740,291...137,765,758
Ensembl chr15:137,740,291...137,765,784
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 chr15:140,264,708...140,279,020
Ensembl chr15:140,244,006...140,280,190
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,626...139,694,826
JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,709,315...137,721,806
Ensembl chr15:137,709,322...137,721,806
JBrowse link
G LOC100521825 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:139,040,721...139,041,685 JBrowse link
G LOC100625810 olfactory receptor 6B3-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:139,049,403...139,050,341 JBrowse link
G LRRFIP1 LRR binding 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 chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385
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 chr15:139,734,539...139,745,131 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 chr15:137,173,962...137,219,724
Ensembl chr15:137,168,049...137,219,853
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 chr15:138,999,174...139,031,892
Ensembl chr15:138,999,174...139,031,897
JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:140,324,087...140,332,226
Ensembl chr15:140,324,286...140,328,640
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 chr15:139,268,930...139,272,155
Ensembl chr15:139,268,929...139,277,541
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 chr15:139,887,439...139,917,887
Ensembl chr15:139,881,221...139,917,089
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 chr15:139,881,217...139,887,505
Ensembl chr15:139,881,221...139,917,089
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 chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,419...137,837,236
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 chr15:139,918,006...139,937,168 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 chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954
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 chr15:137,232,781...137,255,884
Ensembl chr15:137,235,936...137,261,057
JBrowse link
G RAMP1 receptor 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 chr15:137,490,440...137,535,555
Ensembl chr15:137,490,087...137,535,555
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 chr15:137,444,905...137,482,073
Ensembl chr15:137,380,604...137,482,075
JBrowse link
G RNPEPL1 arginyl aminopeptidase 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 chr15:139,542,193...139,551,257
Ensembl chr15:139,542,602...139,551,250
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 chr15:137,637,076...137,674,726
Ensembl chr15:137,637,071...137,674,736
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 chr15:140,023,836...140,058,291
Ensembl chr15:140,023,822...140,058,288
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 chr15:139,821,021...139,881,099
Ensembl chr15:139,821,046...139,881,098
JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:140,144,334...140,154,361
Ensembl chr15:140,144,334...140,154,366
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 chr15:140,190,198...140,223,454
Ensembl chr15:140,185,680...140,223,477
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 chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477
JBrowse link
G TWIST2 twist family bHLH 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 chr15:138,228,640...138,276,341 JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr15:137,567,250...137,620,586 JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 OMIM
ClinVar
PMID:9536098 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 More... NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,435,510...58,558,939
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,712...8,025,925
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 6:75,618,317...75,638,591
Ensembl chr 6:75,618,416...75,638,591
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
JBrowse link
G ZFYVE27 zinc finger FYVE-type 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 chr14:109,088,758...109,119,854
Ensembl chr14:109,088,820...109,163,728
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FA2H fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,821
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,577,168...71,613,291
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 2:71,577,165...71,602,756
Ensembl chr 2:71,577,166...71,602,818
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 chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,469...180,405,585
JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr 1:180,164,427...180,299,491
Ensembl chr 1:180,164,458...180,299,496
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,013,424...107,269,409
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 PMID:25802881 PMID:29072892 PMID:34008892 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr 3:106,300,748...106,724,538
Ensembl chr 3:106,300,750...106,724,934
JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,095...107,658,455
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337
JBrowse link
G SPAST spastin ISO 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
ClinVar
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,810...107,508,927
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,839,964...107,918,350
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:106,822,203...106,999,125
Ensembl chr 3:106,821,423...106,999,102
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr 3:107,299,597...107,340,029
Ensembl chr 3:107,304,385...107,340,012
JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 OMIM
ClinVar
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6H19orf12 chromosome 6 C19orf12 homolog 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 6:39,813,644...39,825,069
Ensembl chr 6:39,814,494...39,825,001
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 OMIM
ClinVar
PMID:19056803 PMID:25741868 PMID:28492532 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,890,149...114,053,352
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 chr14:114,062,451...114,167,460
Ensembl chr14:114,062,457...114,168,204
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 OMIM
ClinVar
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 More... NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: 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 4:106,656,632...106,668,252
Ensembl chr 4:106,656,717...106,683,099
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 4:106,646,591...106,656,490
Ensembl chr 4:106,646,010...106,656,452
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:28492532 NCBI chr 4:106,420,614...106,485,468
Ensembl chr 4:106,425,692...106,486,931
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 3:3,622,684...3,642,370
Ensembl chr 3:3,622,696...3,642,415
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
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...
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 NCBI chr14:120,451,421...120,583,725
Ensembl chr14:120,451,573...120,583,723
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit 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 3:8,013,701...8,017,701
Ensembl chr 3:8,013,712...8,025,925
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 More... NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,807,328...120,946,052
JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,066,674...121,134,891
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,419,211...68,471,658
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS37A VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,642...4,988,082
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 OMIM
ClinVar
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,238,740...48,292,181
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 chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 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 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr13:158,291,090...158,326,902
Ensembl chr13:158,288,131...158,326,885
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
JBrowse link
G C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,814,494...39,825,001
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 8:114,016,915...114,035,905
Ensembl chr 8:114,011,304...114,035,357
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A OMIM
ClinVar
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,035...69,806,496
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,577,168...71,613,291
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 chr15:32,064,431...32,175,095 JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 OMIM
ClinVar
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,858...32,260,006
JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:32,175,096...32,202,366
Ensembl chr15:32,175,104...32,202,335
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 chr15:31,995,727...32,042,297
Ensembl chr15:31,995,730...32,056,755
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 3:26,759,365...26,770,325
Ensembl chr 3:26,722,193...26,770,322
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 4:110,493,490...110,505,123
Ensembl chr 4:110,493,495...110,505,138
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 4:110,512,349...110,523,222
Ensembl chr 4:110,513,213...110,523,071
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 chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,506,052
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 6:663,201...708,800
Ensembl chr 6:663,109...712,015
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...616,199
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:779,164...854,449
Ensembl chr 6:778,967...852,821
JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:636,350...652,260
Ensembl chr 6:636,350...652,165
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 6:893,377...897,706 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:869,284...890,137
Ensembl chr 6:869,232...890,135
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
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 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:976,957...982,997
Ensembl chr 6:976,977...983,198
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type OMIM
ClinVar
PMID:1899786 PMID:2779008 PMID:9536098 PMID:9634528 PMID:9635427 More... NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr 6:865,498...869,253
Ensembl chr 6:863,802...869,226
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 chr 2:140,420,422...140,427,160
Ensembl chr 2:140,382,870...140,427,160
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 6:54,732,701...54,747,706
Ensembl chr 6:54,731,557...54,749,249
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25609768 PMID:25741868 PMID:28492532 More... NCBI chr 2:51,276,352...51,287,572
Ensembl chr 2:51,276,335...51,293,544
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 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,929
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 chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 OMIM
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr 7:3,193,433...3,557,413 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 cation transporting 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 6:75,618,317...75,638,591
Ensembl chr 6:75,618,416...75,638,591
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 C-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 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,323
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:41,571,054...41,636,058 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 chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,637...94,663,029
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,828,568...28,929,964
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 chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,148...14,668,327
JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBAP1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,243...32,626,479
JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28052917 PMID:29500230 NCBI chr 3:112,632,985...112,671,127
Ensembl chr 3:112,628,746...112,671,085
JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCYT2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31637422 NCBI chr12:1,084,416...1,091,031
Ensembl chr12:1,084,410...1,092,592
JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 6:166,012,590...166,015,051 JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position